FB2025_02 , released April 17, 2025
Human Disease Model Report: chromosome 16p11.2 deletion syndrome, 593-kb
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General Information
Name
chromosome 16p11.2 deletion syndrome, 593-kb
FlyBase ID
FBhh0001068
Disease Ontology Term
Parent Disease
OMIM
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
Overview

The 16p11.2 deletion is a recurrent CNV (copy-number variant) extending approximately 593kb, a region that includes 25 unique genes. It is associated with a range of neurodevelopmental features, including autism, intellectual disability, epilepsy, and obesity. The variability of associated phenotypes and other findings suggest that the observed phenotypes in 16p11.2 deletion are not caused by haploinsufficiency of a single causative gene, but rather are caused by multiple dosage-sensitive genes in the region, which may also interact with each other.

Of the 25 human genes within the 16p11.2 deletion, fly orthologs of 14 were identified. Using RNAi-effected knockdown targeted at each fly gene, multiple cellular and neurodevelopmental phenotypes were assessed. Those with significant neurodevelopmental phenotypes include rl (orthologous to MAPK3; see FBhh0000842), Pp4-19C (orthologous to PPP4C), CG10465 (orthologous to KCTD13), Ald1 (orthologous to ALDOA), Tao (orthologous to TAOK2; see FBhh0001219), and Rph (orthologous to DOC2A). Phenotypes of pairwise knockdowns were assessed in the developing eye; interactions with other neurodevelopmental genes were also assessed in the developing eye. In a separate study, neurodevelopmental phenotypes at the larval neuromuscular junction are described for two fly kinesin genes, Klp68D and Klp64D; KIF22, one of many kinesin genes in human, is within the 16p11.2 deletion.

Results support a complex interaction model for disease pathogenicity, where multiple 16p11.2 genes are sensitive to dosage imbalance and participate in complex interactions; they both enhance and suppress the phenotypic effects of each other; they are also modulated by other genes in the genetic background.

[updated Apr. 2021 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: chromosome 16p11.2 deletion syndrome, 593-kb
OMIM report

[CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB](https://omim.org/entry/611913)

Human gene(s) implicated

[CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB](https://omim.org/entry/611913)

Symptoms and phenotype

The 16p11.2 recurrent microdeletion phenotype is characterized by developmental delay, intellectual disability, and/or autism spectrum disorder. Seizures are observed in approximately 20% of individuals; macrocephaly, seizures, and/or obesity are also observed in some individuals. [Gene Reviews, 16p11.2 Recurrent Microdeletion; 2019.06.28]

(FlyBase Curators, 2013-)

Chromosome 16p11.2 deletion syndrome is associated with a range of neurodevelopmental features, including autism and severe early-onset obesity. [from MIM:611913; 2019.06.28]

(OMIM, 2013-)
Genetics

Both microdeletions and microduplications can result from recurrent CNVs (copy-number variants). Recurrent CNVs generally arise by nonallelic homologous recombination during meiosis, with breakpoints in the large duplicated blocks of sequence flanking the CNV event. Because the breakpoints cluster within defined regions, the extent of recurrent CNVs is essentially identical even in unrelated individuals (Watson et al., 2014; pubmed:24773319).

(FlyBase Curators, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
chromosome 16p11.2 deletion syndrome
chromosome 16p11.2 deletion syndrome, 593kb
Ortholog Information
Human gene(s) in FlyBase
Other mammalian ortholog(s) used
    D. melanogaster Gene Information (6)
    Dmel\rl
    Gene Snapshot
    rolled (rl) encodes the mitogen activated protein (MAP) kinase, core component of the RAS/MAPK pathway. It is inactivated by the phosphatases encoded by PTP-ER and Mkp3. It phosphorylates a diverse set of downstream cytoplasmic and nuclear effectors, which impact cell fate decisions in a wide array of tissues. [Date last reviewed: 2019-03-14]
    Molecular function (GO)
    Cellular component (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    High-scoring ortholog of human MAPK1 and MAPK3 (1 Drosophila to 2 human). Dmel\rl shares 76-82% identity and 84-90% similarity with the human genes.

    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    H. sapiens (Human)
    Dmel\Pp4-19C
    Gene Snapshot
    Contributions welcome
    Molecular function (GO)
    Cellular component (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    High-scoring ortholog of human PPP4C (1 Drosophila to 1 human); multiple other homologous genes in both species. Dmel\Pp4-19C shares 91% identity and 96% similarity with the human gene.

    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    H. sapiens (Human)
    Dmel\CG10465
    Gene Snapshot
    Contributions welcome
    Molecular function (GO)
      Cellular component (GO)
        Gene Groups / Pathways
          Comments on ortholog(s)

          High-scoring ortholog of human KCTD10, KCTD13, TNFAIP1 (1 Drosophila to 3 human). Dmel\CG10465 shares 57-68% identity and 71-79% similarity with the human genes.

          Orthologs and Alignments from DRSC
          DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
          H. sapiens (Human)
          Dmel\Aldo
          Gene Snapshot
          Aldolase (Aldo) encodes an enzyme that catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate into dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate, and thus plays an essential role in glycolysis and gluconeogenesis. It also catalyzes the conversion of beta-D-fructose 1-phosphate into dihydroxyacetone phosphate and D-glyceraldehyde and plays a role in fructose catabolism. [Date last reviewed: 2025-03-27]
          Molecular function (GO)
          Cellular component (GO)
          Gene Groups / Pathways
          Comments on ortholog(s)

          High-scoring ortholog of human ALDOA, ALDOB, ALDOC (2 Drosophila to 3 human); the paralogous Drosphila gene is Ald2. Dmel\Ald1 shares 63-68% identity and 74-79% similarity with the human genes.

          Orthologs and Alignments from DRSC
          DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
          H. sapiens (Human)
          Dmel\Tao
          Gene Snapshot
          Tao (Tao) encodes a Ser/Thr kinase belonging to the Mst/Ste20 family. It is implicated in the Hippo and PAR-1 pathways. It contributes to restriction of tissue growth during development, regulation of microtubule dynamics, neuronal polarity, neural development, ethanol-stimulated behavioral response, and apoptosis. [Date last reviewed: 2019-03-14]
          Molecular function (GO)
          Cellular component (GO)
          Gene Groups / Pathways
          Comments on ortholog(s)

          High-scoring ortholog of human TAOK1, TAOK2, TAOK3 (1 Drosophila to 3 human). Dmel\Tao shares 47-49% identity and 60-64% similarity with the human genes.

          Orthologs and Alignments from DRSC
          DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
          H. sapiens (Human)
          Dmel\Rph
          Gene Snapshot
          Contributions welcome
          Molecular function (GO)
          Cellular component (GO)
          Gene Groups / Pathways
          Comments on ortholog(s)

          Moderate- to high-scoring ortholog of RPH3A, DOC2B, DOC2A RPH3AL (1 Drosophila to 4 human). Dmel\Rph aligns only to RPH3A along the full length of the encoded protein. Rph shares 31-39% identity and 46-58% similarity with the human genes.

          Orthologs and Alignments from DRSC
          DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
          H. sapiens (Human)
          Other Genes Used: Viral, Bacterial, Synthetic (0)
            Summary of Physical Interactions (129 groups)
            rl
            protein-protein
            Interacting group
            Assay
            References
            rl - aop
            enzymatic study, autoradiography, pull down
            (Baker et al., 2001)
            rl - Cdk2
            anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting
            (Friedman et al., 2011, Friedman et al., 2011)
            rl - CG9391
            anti tag coimmunoprecipitation, peptide massfingerprinting
            (Friedman et al., 2011)
            rl - cic
            two hybrid, comigration in non denaturing gel electrophoresis, western blot, anti tag coimmunoprecipitation, pull down, autoradiography, anti tag western blot, cross-linking study, Identification by mass spectrometry
            (Paul et al., 2020, Futran et al., 2015, Astigarraga et al., 2007)
            rl - corto
            anti bait coimmunoprecipitation, western blot, pull down, autoradiography, anti tag coimmunoprecipitation, anti tag western blot
            (Mouchel-Vielh et al., 2011)
            rl - Dsor1
            anti tag coimmunoprecipitation, western blot, proximity ligation assay, fluorescence microscopy
            (Hall and Verheyen, 2015, Tipping et al., 2010)
            rl - Gαq
            anti tag coimmunoprecipitation, peptide massfingerprinting
            (Friedman et al., 2011)
            rl - Gp93
            anti tag coimmunoprecipitation, peptide massfingerprinting
            (Friedman et al., 2011)
            rl - hid
            two hybrid
            (Hu et al., 2017.6.13)
            rl - hng1
            two hybrid
            (Hu et al., 2017.6.13)
            rl - Hsp60A
            anti tag coimmunoprecipitation, peptide massfingerprinting
            (Friedman et al., 2011)
            rl - Imp
            anti tag coimmunoprecipitation, anti tag western blot
            (Graeve et al., 2024)
            rl - Jra
            enzymatic study, autoradiography
            (Ciapponi et al., 2001)
            rl - kay
            enzymatic study, autoradiography
            (Ciapponi et al., 2001)
            rl - krz
            anti tag coimmunoprecipitation, anti tag western blot, western blot
            (Tipping et al., 2010)
            rl - Lamtor3
            anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography
            (Mouchel-Vielh et al., 2011, Mouchel-Vielh et al., 2008)
            rl - Lk6
            anti tag coimmunoprecipitation, anti tag western blot
            (Parra-Palau et al., 2005)
            rl - Lpin
            anti tag coimmunoprecipitation, peptide massfingerprinting
            (Friedman et al., 2011)
            rl - msk
            anti bait coimmunoprecipitation, western blot
            (Lorenzen et al., 2001)
            rl - pnt
            enzymatic study, autoradiography
            (Qiao et al., 2006)
            rl - poe
            anti tag coimmunoprecipitation, anti tag western blot
            (Xie et al., 2021)
            rl - Ppm1
            anti tag coimmunoprecipitation, anti tag western blot
            (Friedman and Perrimon, 2006)
            rl - Rack1
            anti tag coimmunoprecipitation, anti tag western blot
            (Xie et al., 2021)
            rl - Raf
            anti tag coimmunoprecipitation, peptide massfingerprinting
            (Friedman et al., 2011)
            rl - Svil
            anti tag coimmunoprecipitation, peptide massfingerprinting
            (Friedman et al., 2011)
            rl - tay
            pull down, autoradiography, anti tag coimmunoprecipitation, western blot
            (Molnar and de Celis, 2013)
            RNA-protein
            Interacting group
            Assay
            References
            rl - pum
            rna three hybrid
            (Kim et al., 2012)
            Pp4-19C
            protein-protein
            Interacting group
            Assay
            References
            Pp4-19C - Cenp-C
            anti tag coimmunoprecipitation, peptide massfingerprinting, anti tag western blot, pull down, western blot
            (Lipinszki et al., 2015)
            Pp4-19C - CG4666
            experimental knowledge based
            (Guruharsha et al., 2011)
            Pp4-19C - cos
            pull down, anti tag western blot, anti tag coimmunoprecipitation
            (Jia et al., 2009)
            Pp4-19C - flfl
            anti tag coimmunoprecipitation, western blot, peptide massfingerprinting
            (Lipinszki et al., 2015)
            Pp4-19C - IKKβ
            anti tag coimmunoprecipitation, anti tag western blot
            (Salem Wehbe et al., 2021)
            Pp4-19C - key
            anti tag coimmunoprecipitation, anti tag western blot
            (Salem Wehbe et al., 2021)
            Pp4-19C - PPP4R2r
            anti tag coimmunoprecipitation, western blot, experimental knowledge based
            (Salem Wehbe et al., 2021, Lipinszki et al., 2015, Guruharsha et al., 2011)
            Pp4-19C - Ptpa
            anti bait coimmunoprecipitation, western blot
            (Zhang et al., 2016)
            Pp4-19C - sa
            anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
            (Rhee et al., 2014)
            Pp4-19C - smo
            anti tag coimmunoprecipitation, anti tag western blot, pull down
            (Jia et al., 2009)
            Pp4-19C - Tap42
            experimental knowledge based, anti tag coimmunoprecipitation, anti tag western blot
            (Wang et al., 2012, Guruharsha et al., 2011)
            RNA-protein
            Interacting group
            Assay
            References
            Pp4-19C - stau
            anti tag coimmunoprecipitation, partial DNA sequence identification by hybridization, anti bait coimmunoprecipitation
            (Laver et al., 2013)
            CG10465
            protein-protein
            Interacting group
            Assay
            References
            CG10465
            two hybrid
            (Hu et al., 2017.6.13)
            CG10465 - CG9578
            two hybrid
            (Hu et al., 2017.6.13)
            CG10465 - CG10841
            two hybrid
            (Hu et al., 2017.6.13)
            CG10465 - CG15547
            two hybrid
            (Hu et al., 2017.6.13)
            CG10465 - Dref
            two hybrid
            (Hu et al., 2017.6.13)
            CG10465 - Mob4
            two hybrid
            (Hu et al., 2017.6.13)
            Aldo
            RNA-protein
            Interacting group
            Assay
            References
            Aldo - aub
            anti tag coimmunoprecipitation, quantitative reverse transcription pcr
            (Rojas-Ríos et al., 2024)
            protein-protein
            Interacting group
            Assay
            References
            Aldo
            two hybrid
            (Sullivan et al., 2003)
            Aldo - Act79B
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Act88F
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Actn
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Adh
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - AnxB10
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - apolpp
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Ar2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Argk1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Atg14
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - ATPsynCF6
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - awd
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Bacc
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Calr
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - capt
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG1910
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG2852
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG5500
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG5506
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG8891
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG13893
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG14207
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG14715
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG16826
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - CG31343
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Chd64
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - COX7AL2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - cPges
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Cs1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Df31
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - EndoGI
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Eno
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - fabp
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Fer2LCH
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Fkbp12
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Fkbp14
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - fln
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - ft
            anti tag coimmunoprecipitation, peptide massfingerprinting
            (Kwon et al., 2013)
            Aldo - Gapdh2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Glo1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Glyp
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Gpdh1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Gpo1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - GstO3
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - GstS1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Inos
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Lsp2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - mAcon1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Mdh2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Mf
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Mhc
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Mlc1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Mlc2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Nacα
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Nlp
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - PCNA
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Pgam1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Pgd
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Pgk
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - PHDP
            anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
            (Rhee et al., 2014)
            Aldo - Picot
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Prm
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Prx6c
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - regucalcin
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - RhoGDI
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Scp1
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - scu
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Sh3β
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Sod2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Spindly
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - TER94
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Tm2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - tn
            anti bait coimmunoprecipitation, western blot, pull down, molecular weight estimation by staining, Identification by mass spectrometry
            (Bawa et al., 2020)
            Aldo - TpnC41C
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Tppl
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Uch
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - up
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - wupA
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Yp2
            experimental knowledge based
            (Guruharsha et al., 2011)
            Aldo - Yp3
            experimental knowledge based
            (Guruharsha et al., 2011)
            Tao
            protein-protein
            Interacting group
            Assay
            References
            Tao - GckIII
            enzymatic study, western blot, anti tag coimmunoprecipitation, anti tag western blot
            (Poon et al., 2018)
            Tao - hpo
            protein kinase assay, anti tag western blot
            (Boggiano et al., 2011)
            Tao - msn
            enzymatic study, western blot, anti tag coimmunoprecipitation, anti tag western blot
            (Li et al., 2018)
            Alleles Reported to Model Human Disease (Disease Ontology) (34 alleles)
            rl
            Models Based on Experimental Evidence ( 8 )
            Modifiers Based on Experimental Evidence ( 12 )
            Allele
            Disease
            Interaction
            References
            rlJF01080
            ameliorates  mitochondrial DNA depletion syndrome 15
            modeled by TFAMUAS.cCa
            (Duncan et al., 2018)
            rl1
            ameliorates  autosomal dominant cerebellar ataxia
            modeled by Hsap\ATXN182Q.UAS
            (Park et al., 2013)
            ameliorates  neurofibromatosis
            modeled by Nf1E2
            (Walker et al., 2006)
            ameliorates  X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
            modeled by Graf1
            (Kim et al., 2021)
            ameliorates  Noonan syndrome
            modeled by csw5
            (Leahy et al., 2024)
            rl10
            ameliorates  X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
            modeled by Graf1
            (Kim et al., 2021)
            rlSem
            exacerbates  carcinoma
            modeled by Ras85DV12.UAS
            (Karim and Rubin, 1998)
            rlSem.C.UAS
            DOES NOT ameliorate  neurodegenerative disease
            modeled by Hsap\HTTQ93.ex1.UAS
            (Liévens et al., 2008)
            rlSem.S.UAS
            exacerbates  hematologic cancer
            modeled by mxc1
            (Kurihara et al., 2020)
            rlGD4697
            ameliorates  carcinoma
            modeled by Ras85DV12.UAS
            (Murcia et al., 2019)
            modeled by Ras85DV12.UAS, scribKK101128
            (Murcia et al., 2019)
            rlHMS00173
            ameliorates  prostate cancer
            modeled by Ras85DV12.UAS
            (Rambur et al., 2020)
            ameliorates  mitochondrial DNA depletion syndrome 15
            modeled by TFAMUAS.cCa
            (Duncan et al., 2018)
            ameliorates  hematologic cancer
            modeled by mxc1
            (Kurihara et al., 2020)
            rlGD12910
            ameliorates  Alzheimer's disease 1
            modeled by Hsap\APP695.UAS.Tag:MYC
            (Huichalaf et al., 2019)
            rlRNAi.UAS.cUa
            ameliorates  cardiomyopathy
            modeled by Hsap\RAF1gof.UAS
            (Yu et al., 2013)
            rlKK115768
            model of  chromosome 16p11.2 deletion syndrome, 593-kb
            is ameliorated by COX6ALKK101601
            (Iyer et al., 2018)
            is ameliorated by armKK102545
            (Iyer et al., 2018)
            exacerbates  brain cancer
            modeled by Ras85DV12.cUa.UAS, scrib673
            (Manzanero-Ortiz et al., 2021)
            rlUAS.Tag:FLAG
            ameliorates  neurodegenerative disease
            modeled by Zzzz\CAG63Q.GMR.Tag:HA
            (Xie et al., 2021)
            ameliorates  Machado-Joseph disease
            modeled by Hsap\ATXN3tr.Q78.UAS.Tag:HA
            (Xie et al., 2021)
            Pp4-19C
            Models Based on Experimental Evidence ( 1 )
            Modifiers Based on Experimental Evidence ( 2 )
            Allele
            Disease
            Interaction
            References
            Pp4-19CGD9561
            model of  chromosome 16p11.2 deletion syndrome, 593-kb
            is ameliorated by Atx2GD11562
            (Iyer et al., 2018)
            is ameliorated by PtenKK109278
            (Iyer et al., 2018)
            is ameliorated by armKK102545
            (Iyer et al., 2018)
            Pp4-19CHMJ21831
            exacerbates  cancer
            modeled by RbfHMS03004
            (Parkhitko et al., 2021)
            CG10465
            Models Based on Experimental Evidence ( 1 )
            Allele
            Disease
            Evidence
            References
            CG10465KK105756
            model of  chromosome 16p11.2 deletion syndrome, 593-kb
            CEA
            (Iyer et al., 2018)
            Modifiers Based on Experimental Evidence ( 1 )
            Allele
            Disease
            Interaction
            References
            CG10465KK105756
            model of  chromosome 16p11.2 deletion syndrome, 593-kb
            is exacerbated by CG14607KK104012
            (Iyer et al., 2018)
            is ameliorated by Sgf29KK107577
            (Iyer et al., 2018)
            is ameliorated by armKK102545
            (Iyer et al., 2018)
            is ameliorated by paraKK108534
            (Iyer et al., 2018)
            Aldo
            Models Based on Experimental Evidence ( 1 )
            Allele
            Disease
            Evidence
            References
            AldoGD17138
            model of  chromosome 16p11.2 deletion syndrome, 593-kb
            CEA
            (Iyer et al., 2018)
            Modifiers Based on Experimental Evidence ( 1 )
            Allele
            Disease
            Interaction
            References
            AldoJF02071
            ameliorates  glioblastoma
            modeled by Pi3K92ECAAX.UAS, btl::Egfrλ.UAS
            (Chi et al., 2019)
            Tao
            Models Based on Experimental Evidence ( 7 )
            Modifiers Based on Experimental Evidence ( 4 )
            Rph
            Models Based on Experimental Evidence ( 3 )
            Modifiers Based on Experimental Evidence ( 2 )
            Allele
            Disease
            Interaction
            References
            RphJF01970
            exacerbates  Parkinson's disease
            modeled by Hsc70-5KK100233
            (Zhu et al., 2021)
            RphGD7330
            model of  chromosome 16p11.2 deletion syndrome, 593-kb
            is ameliorated by Atx2GD11562
            (Iyer et al., 2018)
            Alleles Representing Disease-Implicated Variants
            Genetic Tools, Stocks and Reagents
            Sources of Stocks
            Contact lab of origin for a reagent not available from a public stock center.
            Bloomington Stock Center Disease Page
            Related mammalian, viral, bacterial, or synthetic transgenes
            Allele
            Transgene
            Publicly Available Stocks
            Hsap\MAPK3UAS.cBa.Tag:HA
            PBac{UAS-hMAPK3.HA.B}
            y1 w*; PBac{UAS-hMAPK3.HA.B}VK00033/TM3, Sb1 Ser1
            Hsap\MAPK3UAS.cZa
            P{UAS-hMAPK3.Z}
            w*; P{UAS-hMAPK3.Z}attP40
            Hsap\MAPK3UAS.Tag:HA
            P{UAS-hMAPK3.HA}
            Selected Drosophila transgenes
            Allele
            Transgene
            Publicly Available Stocks
            TaoΔ423-900.UAS.Tag:V5
            P{UAS-Tao.Delta423-900.V5}
            TaoUAS.Tag:HA
            P{UASp-HA-Tao}
            w*; P{UASp-HA-Tao}2; Sb1/TM3, Ser1
            rlE335K.UAS.cTa
            P{UAS-rl.E335K.T}
            rlD334N.UAS.cTa
            P{UAS-rl.D334N.T}
            rlR80S.UAS
            P{UAS-rl.R80S}
            rlD334N.UAS.cKa
            P{UAS-rl.D334N.K}
            rlR80S.D334N.UAS
            P{UAS-rl.R80S.D334N}
            rlUAS.Tag:FLAG
            M{UAS-rl.FLAG}
            rlSem.C.UAS
            P{UAS-rlSem}
            rlSem.S.UAS
            P{UAS-rlSem.S}
            y1 w*; P{UAS-rlSem.S}2
            RNAi constructs available
            Allele
            Transgene
            Publicly Available Stocks
            RphGD7330
            P{GD7330}
            w1118; P{GD7330}v52438
            RphJF01970
            P{TRiP.JF01970}
            y1 v1; P{TRiP.JF01970}attP2
            RphKK107492
            P{KK107492}
            P{KK107492}VIE-260B
            RphNIG.11556R
            P{NIG.11556R}
            P{NIG.11556R}2
            RphHMJ21372
            P{TRiP.HMJ21372}
            y1 v1; P{TRiP.HMJ21372}attP40/CyO
            TaoRNAi.UAS.L-5UTR
            P{UAS-Tao.RNAi.L-5UTR}
            TaoRNAi.UAS.L-kin
            P{UAS-Tao.RNAi.L-kin}
            TaoRNAi.UAS.cUa
            P{UAS-Tao.RNAi.U}
            TaoGD8262
            P{GD8262}
            w1118; P{GD8262}v17432
            TaoKK108458
            P{KK108458}
            P{KK108458}VIE-260B
            TaoJF01803
            P{TRiP.JF01803}
            y1 v1; P{TRiP.JF01803}attP2
            TaoGL00015
            P{TRiP.GL00015}
            y1 sc* v1 sev21; P{TRiP.GL00015}attP2
            TaoHMS01226
            P{TRiP.HMS01226}
            y1 sc* v1 sev21; P{TRiP.HMS01226}attP2
            TaoRNAi.UAS.cWa
            P{UAS-Tao-1.RNAi.W}
            TaoHMS02333
            P{TRiP.HMS02333}
            y1 v1; P{TRiP.HMS02333}attP40
            TaoRNAi.UAS.cHa
            P{UAS-Tao.RNAi.H}
            Pp4-19ClexAop.HMS01841
            P{lexAop-HMS01841}
            Pp4-19CGD9561
            P{GD9561}
            w1118; P{GD9561}v25317
            Pp4-19CJF02808
            P{TRiP.JF02808}
            y1 v1; P{TRiP.JF02808}attP2
            Pp4-19CHMS01841
            P{TRiP.HMS01841}
            y1 sc* v1 sev21; P{TRiP.HMS01841}attP2
            Pp4-19CHMJ21831
            P{TRiP.HMJ21831}
            y1 v1; P{TRiP.HMJ21831}attP40/CyO
            Pp4-19CVSH330223
            P{VSH330223}
            P{VSH330223}attP40
            AldoGD11803
            P{GD11803}
            w1118 P{GD11803}v27541
            AldoGD17138
            P{GD17138}
            w1118; P{GD17138}v47667
            AldoJF02071
            P{TRiP.JF02071}
            y1 v1; P{TRiP.JF02071}attP2
            AldoKK107680
            P{KK107680}
            P{KK107680}VIE-260B
            AldoNIG.6058R
            P{NIG.6058R}
            P{NIG.6058R}1
            AldoHMC06146
            P{TRiP.HMC06146}
            y1 sc* v1 sev21; P{TRiP.HMC06146}attP40
            CG10465GD12590
            P{GD12590}
            CG10465JF02026
            P{TRiP.JF02026}
            y1 v1; P{TRiP.JF02026}attP2
            CG10465KK105756
            P{KK105756}
            P{KK105756}VIE-260B
            CG10465NIG.10465R
            P{NIG.10465R}
            P{NIG.10465R}1
            CG10465HMC04553
            P{TRiP.HMC04553}
            y1 sc* v1 sev21; P{TRiP.HMC04553}attP40
            CG10465HMJ24073
            P{TRiP.HMJ24073}
            y1 v1; P{TRiP.HMJ24073}attP40/CyO
            rlKK115733
            P{KK115733}
            rlKK116074
            P{KK116074}
            P{KK116074}VIE-260B
            rlGD4697
            P{GD4697}
            w1118; P{GD4697}v43123
            rlJF01080
            P{TRiP.JF01080}
            y1 v1; P{TRiP.JF01080}attP2
            rlJF01366
            P{TRiP.JF01366}
            y1 v1; P{TRiP.JF01366}attP2
            rlKK115768
            P{KK115768}
            P{KK115768}VIE-260B
            rlGL00215
            P{TRiP.GL00215}
            y1 sc* v1 sev21; P{TRiP.GL00215}attP2
            rlHMS00173
            P{TRiP.HMS00173}
            y1 sc* v1 sev21; P{TRiP.HMS00173}attP2
            rlGD12910
            P{GD12910}
            w1118; P{GD12910}v35641
            rlRNAi.UAS.cUa
            P{UAS-rl.RNAi.U}
            Selected Drosophila classical alleles
            Allele
            Allele class
            Mutagen
            Publicly Available Stocks
            TaoEP1455
            P-element activity
            w1118 P{EP}EP1455
            Taoeta
            loss of function allele
            ethyl methanesulfonate
            rl2M1
            amorphic allele - genetic evidence
            ethyl methanesulfonate
            rlES7
            loss of function allele
            rl9
            amorphic allele - genetic evidence
            ethyl methanesulfonate
            rlla8
            amorphic allele - genetic evidence
            ethyl methanesulfonate
            rlSem
            ethyl methanesulfonate
            rlSem/CyO/Dp(?;2)bwD, S1 wgSp-1 Ms(2)M1 bwD
            rlx-3-30
            loss of function allele
            rl1
            loss of function allele
            spontaneous
            rl1
            rl4H6
            amorphic allele - genetic evidence
            ethyl methanesulfonate
            rl2L1
            amorphic allele - genetic evidence
            ethyl methanesulfonate
            rlR29
            amorphic allele - genetic evidence
            X ray
            rl10
            ethyl methanesulfonate
            rlR26
            amorphic allele - genetic evidence
            X ray
            rlE-80
            loss of function allele
            ethyl methanesulfonate
            References (9)