Human Disease Model Report: spinal muscular atrophy, type I

General Information

Name

spinal muscular atrophy, type I

FlyBase ID

FBhh0000354

Disease Ontology Term

Werdnig-Hoffmann disease

Parent Disease

spinal muscular atrophy

OMIM

SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

Overview

One of several spinal muscular atrophies associated with defects in the human gene SMN1. See human disease model report for spinal muscular atrophy, SMN-related (FBhh0000352).

Variant(s) implicated in human disease tested (as analogous mutation in fly gene): F70S in in the fly Smn gene (corresponds to W92S in the human SMN1 gene, implicated in SMA1); I93F in in the fly Smn gene (corresponds to I116F in the human SMN1 gene, implicated in SMA1); M194R in in the fly Smn gene (corresponds to M263R in the human SMN1 gene, implicated in SMA1); Y203C in in the fly Smn gene (corresponds to Y272C in the human SMN1 gene, implicated primarily in SMA1); G210V in in the fly Smn gene (corresponds to G279V in the human SMN1 gene, implicated in SMA1).

[updated Apr. 2019 by FlyBase; FBrf0222196]

Disease Summary Information

Parent Disease Summary: spinal muscular atrophy

Symptoms and phenotype

Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. [From GeneReviews, Spinal Muscular Atrophy, pubmed:20301526 2016.07.11]

(FlyBase Curators, 2013-)

Specific Disease Summary: spinal muscular atrophy, type I

OMIM report

[SPINAL MUSCULAR ATROPHY, TYPE I; SMA1](https://omim.org/entry/253300)

Human gene(s) implicated

[SURVIVAL OF MOTOR NEURON 1; SMN1](https://omim.org/entry/600354)

Symptoms and phenotype

Genetics

Cellular phenotype and pathology

Molecular information

External links

Gene2Function (human gene): SMN1
Gene Cards: SMN1
MedlinePlus (gene): SMN1
MARRVEL (human gene): SMN1
NCBI MedGen: Werdnig-Hoffmann disease (SMA1)
NCBI (Entrez) gene: SMN1; survival of motor neuron 1, telomeric

Disease synonyms

hereditary motor neuropathy proximal type I

HMN (Hereditary motor Neuropathy) Proximal type I

infantile muscular atrophy

muscular atrophy, infantile

progressive muscular atrophy of infancy

SMA1

SMA, infantile acute form

SMA I

spinal muscular atrophy-1

spinal muscular atrophy, type I, SMA1

Werdnig-Hoffmann disease

Related Diseases

Related human health report(s)

spinal muscular atrophy, SMN-related

Related Specific Diseases

OMIM phenotypic series

Disease

Associated Human gene(s)

Drosophila model

Human transgene in Drosophila

[HMNX](https://omim.org/entry/300489)

[ATP7A](https://omim.org/entry/300011)

neuronopathy, distal hereditary motor, X-linked

[SMA1](https://omim.org/entry/253300)

[SMN1](https://omim.org/entry/600354)

spinal muscular atrophy, type I

[SMA2](https://omim.org/entry/253550)

[SMN1](https://omim.org/entry/600354)

spinal muscular atrophy, type II

[SMA3](https://omim.org/entry/253400)

[SMN1](https://omim.org/entry/600354)

spinal muscular atrophy, type III

[SMA3](https://omim.org/entry/253400)

[SMN2](https://omim.org/entry/601627)

spinal muscular atrophy, type III

[SMA4](https://omim.org/entry/271150)

[SMN1](https://omim.org/entry/600354)

spinal muscular atrophy, type IV

[SMAFK](https://omim.org/entry/182980)

[VAPB](https://omim.org/entry/605704)

spinal muscular atrophy, late onset, Finkel type

[SMAJ](https://omim.org/entry/615048)

[CHCHD10](https://omim.org/entry/615903)

spinal muscular atrophy, Jokela type

[SMALED1](https://omim.org/entry/158600)

[DYNC1H1](https://omim.org/entry/600112)

spinal muscular atrophy, lower extremity-predominant 1

[SMALED2A](https://omim.org/entry/615290)

[BICD2](https://omim.org/entry/609797)

spinal muscular atrophy, lower extremity-predominant 2

[SMAX1](https://omim.org/entry/313200)

[AR](https://omim.org/entry/313700)

spinal and bulbar muscular atrophy, X-linked 1

Ortholog Information

Human gene(s) in FlyBase

Hsap\SMN1

Human gene (HGNC)

Symbol / Name

SMN1; survival of motor neuron 1, telomeric

D. melanogaster ortholog (based on DIOPT)

Dmel\Smn

(DIOPT, 2013-)

Comments on ortholog(s)

Many to one: 2 human to 1 Drosophila.

Other mammalian ortholog(s) used

D. melanogaster Gene Information (1)

Dmel\Smn

Gene Snapshot

survival motor neuron (Smn) encodes the eponymous member of the SMN complex, which functions as an assembly chaperone for Sm-class small nuclear ribonucleoproteins. The SMN complex contains three other 'Gemin' proteins encoded by Gem2, Gem3 and rig. Smn is essential for viability but higher levels of the protein are required for proper neuromuscular development and function. [Date last reviewed: 2019-03-14]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

Ortholog of human SMN and SMN2 (1 Drosophila to 1 human). Dmel\Smn shares 26% identity and 42% similarity with human SMN1 and 26% identity and 42% similarity with human SMN2.

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 (31 groups)

Smn

protein-protein

Interacting group

Assay

References

Smn

anti tag coimmunoprecipitation, anti tag western blot, two hybrid, cosedimentation, confirmation by molecular weight

(Gupta et al., 2021, Hu et al., 2017.6.13, Praveen et al., 2014, Praveen et al., 2012, Chan et al., 2003, Miguel-Aliaga et al., 2000)

Smn - Actn

pull down, western blot, anti bait coimmunoprecipitation, anti tag coimmunoprecipitation, peptide massfingerprinting

(Rajendra et al., 2007)

Smn - α-PheRS

experimental knowledge based

(Guruharsha et al., 2011)

Smn - β-PheRS

experimental knowledge based

(Guruharsha et al., 2011)

Smn - CG6984

experimental knowledge based

(Guruharsha et al., 2011)

Smn - CG10126

experimental knowledge based

(Guruharsha et al., 2011)

Smn - Cul1

anti tag coimmunoprecipitation, western blot, Identification by mass spectrometry

(Gray et al., 2018)

Smn - GCC185

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Maccallini et al., 2020)

Smn - Gem2

two hybrid, molecular sieving, molecular weight estimation by staining, anti tag coimmunoprecipitation, western blot, experimental knowledge based, Identification by mass spectrometry, cosedimentation, confirmation by molecular weight, x-ray crystallography, electron tomography, anti tag western blot, x ray scattering, light scattering

(Gupta et al., 2021, Maccallini et al., 2020, Gray et al., 2018, Hu et al., 2017.6.13, Praveen et al., 2014, Grimm et al., 2013, Guruharsha et al., 2011, Chari et al., 2008)

Smn - Gem3

anti bait coimmunoprecipitation, anti tag western blot, pull down, experimental knowledge based, anti tag coimmunoprecipitation, western blot, two hybrid, Identification by mass spectrometry

(Maccallini et al., 2020, Borg et al., 2016, Praveen et al., 2014, Guruharsha et al., 2011, Shpargel et al., 2009, Cauchi et al., 2008)

Smn - Gem4b

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Maccallini et al., 2020)

Smn - Glos

anti tag coimmunoprecipitation, western blot, anti tag western blot, Identification by mass spectrometry

(Maccallini et al., 2020, Matera et al., 2019, Lanfranco et al., 2017)

Smn - icln

x-ray crystallography, electron tomography

(Grimm et al., 2013)

Smn - msk

anti tag coimmunoprecipitation, western blot

(Natalizio and Matera, 2013)

Smn - Nap1

anti tag coimmunoprecipitation, Identification by mass spectrometry, western blot

(Matera et al., 2024)

Smn - Nmdmc

experimental knowledge based

(Guruharsha et al., 2011)

Smn - Rpp20

anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography, two hybrid

(Hua and Zhou, 2004)

Smn - Sbat

anti tag coimmunoprecipitation, anti tag western blot

(Lanfranco et al., 2017)

Smn - SkpA

anti tag coimmunoprecipitation, western blot, Identification by mass spectrometry

(Gray et al., 2018)

Smn - slmb

anti tag coimmunoprecipitation, Identification by mass spectrometry, western blot, anti tag western blot

(Gray et al., 2018)

Smn - SmB

anti tag coimmunoprecipitation, western blot, Identification by mass spectrometry, anti tag western blot

(Gray et al., 2018, Gonsalvez et al., 2006)

Smn - SmD1

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - SmD2

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - SmD3

anti tag coimmunoprecipitation, Identification by mass spectrometry, western blot

(Gray et al., 2018)

Smn - SmE

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - SmF

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - SNRPG

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - Snup

anti bait coimmunoprecipitation, western blot

(Natalizio and Matera, 2013)

Smn - Tgs1

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Maccallini et al., 2020)

Smn - U2A

experimental knowledge based

(Guruharsha et al., 2011)

Smn - Vlet

anti tag coimmunoprecipitation, anti tag western blot

(Lanfranco et al., 2017)

Alleles Reported to Model Human Disease (Disease Ontology) (44 alleles)

Smn

Models Based on Experimental Evidence ( 39 )

Allele

Disease

Evidence

References

Smn^X7

model of spinal muscular atrophy

CEA

(Imlach et al., 2012)

CEC with Smn^HMC03832

(Chen et al., 2022)

model of juvenile spinal muscular atrophy

CEC with Smn^{V72G.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{T205I.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{G73R.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{I93F.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{G210C.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{Y208C.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{G210V.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{Y107C.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{F70S.Tag:FLAG}

(Garcia et al., 2024)

model of intermediate spinal muscular atrophy

CEA with Smn^{T205I.Tag:FLAG}, Smn^f01109

(Praveen et al., 2012)

model of childhood spinal muscular atrophy

CEA with Smn^HMC03832

(Di Giorgio et al., 2017)

CEA with Smn^{T205I.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{D20V.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{F70S.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{V72G.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{G73R.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{I93F.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{Y107C.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{M194R.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{Y203C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{G206S.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019, Gray et al., 2018)

CEA with Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{G210C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{S201A.G206S.Tag:FLAG}

(Gray et al., 2018)

CEA

(Raimer et al., 2020, Gray et al., 2018)

CEA with Smn^{L207Y,G210V.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Δ7S.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{S193I.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{S197P.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204R.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204H.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204R.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204H.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^{RNAi.FL.UAS.WIZ}

model of childhood spinal muscular atrophy

CEA

(Farrugia et al., 2022, Chang et al., 2008)

Smn^{RNAi.N.UAS.WIZ}

model of childhood spinal muscular atrophy

CEA

(Farrugia et al., 2022, Sen et al., 2011, Chang et al., 2008)

CEC

(Borg et al., 2015)

model of spinal muscular atrophy

CEA

(Timmerman and Sanyal, 2012)

Smn^{RNAi.C.UAS.WIZ}

model of childhood spinal muscular atrophy

CEA

(Farrugia et al., 2022, Sen et al., 2011, Chang et al., 2008)

CEC

(Borg et al., 2015)

model of spinal muscular atrophy

CEA

(Timmerman and Sanyal, 2012)

Smn^73Ao

model of childhood spinal muscular atrophy

CEA

(Gupta et al., 2021, Shpargel et al., 2009, Chan et al., 2003)

CEA with Smn^f01109

(Chang et al., 2008)

Smn^B

model of childhood spinal muscular atrophy

CEA

(Gupta et al., 2021, Shpargel et al., 2009)

Smn^{T205I.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

model of intermediate spinal muscular atrophy

CEA with Smn^X7, Smn^f01109

(Praveen et al., 2012)

Smn^JF02057

model of juvenile spinal muscular atrophy

CEA

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA

(Spring et al., 2019)

Smn^f05960

model of childhood spinal muscular atrophy

CEA

(Shpargel et al., 2009, Chang et al., 2008, Rajendra et al., 2007)

CEA with Smn^f01109

(Chang et al., 2008)

Smn^f01109

model of intermediate spinal muscular atrophy

CEA with Smn^{T205I.Tag:FLAG}, Smn^X7

(Praveen et al., 2012)

model of childhood spinal muscular atrophy

CEA

(Raimer et al., 2020, Shpargel et al., 2009, Chang et al., 2008, Rajendra et al., 2007)

CEA with Smn^73Ao

(Chang et al., 2008)

CEA with Smn^f05960

(Chang et al., 2008)

Smn^PL00733

model of childhood spinal muscular atrophy

CEA

(Shpargel et al., 2009)

Smn^{D20V.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

Smn^{F70S.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

Smn^{V72G.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

Smn^{G73R.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

Smn^{I93F.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

Smn^{Y107C.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

Smn^{M194R.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

Smn^{Y203C.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

Smn^{G206S.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Gray et al., 2018, Praveen et al., 2014)

Smn^{G210V.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

Smn^{G210C.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

CEA

(Raimer et al., 2020)

Smn^HMC03832

model of spinal muscular atrophy

CEC

(Chen et al., 2022)

CEC with Smn^X7

(Chen et al., 2022)

model of juvenile spinal muscular atrophy

CEA

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA

(Li et al., 2020, Maccallini et al., 2020, Spring et al., 2019, Di Giorgio et al., 2017)

CEA with Smn^X7

(Di Giorgio et al., 2017)

Smn^E33

model of childhood spinal muscular atrophy

CEA

(Rajendra et al., 2007)

Smn^E2

model of childhood spinal muscular atrophy

CEA

(Rajendra et al., 2007)

Smn^{S201A.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA

(Gray et al., 2018)

Smn^{Δ7S.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA

(Gray et al., 2018)

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Δ7A.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA

(Gray et al., 2018)

Smn^{S201A.G206S.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gray et al., 2018)

Smn^{Y208C.Tag:FLAG}

model of juvenile spinal muscular atrophy

CEC with Smn^X7

(Garcia et al., 2024)

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019)

CEA

(Raimer et al., 2020)

Smn^Δ

model of childhood spinal muscular atrophy

CEA

(Li et al., 2020)

Smn^{S193I.ΔMGLR.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{S197P.ΔMGLR.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Y204R.ΔMGLR.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Y204H.ΔMGLR.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Y204R.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Y204H.v.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{L207Y,G210V.Tag:FLAG}

model of childhood spinal muscular atrophy

CEA with Smn^X7

(Gupta et al., 2021)

Smn^UAS.EGFP

model of spinal muscular atrophy

CEA

(Garcia-Vaquero et al., 2023)

Modifiers Based on Experimental Evidence ( 10 )

Allele

Disease

Interaction

References

Smn^UAS.Tag:FLAG

ameliorates amyotrophic lateral sclerosis type 6

modeled by Hsap\FUS^{R518K.UAS.Tag:HA}

(Casci et al., 2019)

modeled by Hsap\FUS^{R521C.UAS.Tag:HA}

(Casci et al., 2019)

modeled by Hsap\FUS^UAS.Tag:HA

(Casci et al., 2019)

Smn^{RNAi.N.UAS.WIZ}

model of childhood spinal muscular atrophy

is ameliorated by htl^UAS.cMa

(Sen et al., 2011)

is exacerbated by Gem3^ΔN.UAS

(Borg et al., 2015)

Smn^{RNAi.C.UAS.WIZ}

model of childhood spinal muscular atrophy

is ameliorated by htl^UAS.cMa

(Sen et al., 2011)

is exacerbated by Gem3^ΔN.UAS

(Borg et al., 2015)

Smn^73Ao

model of childhood spinal muscular atrophy

is exacerbated by ASPP^d05779

(Chang et al., 2008)

is ameliorated by Atf6^c05057

(Chang et al., 2008)

is ameliorated by CG10561^f06260

(Chang et al., 2008)

is ameliorated by CG13775^f05549

(Chang et al., 2008)

is exacerbated by CG33172^f04448

(Chang et al., 2008)

is exacerbated by Eip75B^d09801

(Chang et al., 2008)

is exacerbated by Mad¹²

(Chang et al., 2008)

is ameliorated by Moe^e02369

(Chang et al., 2008)

is exacerbated by SK^d03336

(Chang et al., 2008)

is exacerbated by btl^f02864

(Chang et al., 2008)

is ameliorated by ctp^f02345

(Chang et al., 2008)

is ameliorated by mlt^e00818

(Chang et al., 2008)

is exacerbated by net^f04249

(Chang et al., 2008)

is exacerbated by spri^d05295

(Chang et al., 2008)

is exacerbated by wit^UAS.cMa

(Chang et al., 2008)

is exacerbated by wit^d02492

(Chang et al., 2008)

Smn^GL00581

exacerbates amyotrophic lateral sclerosis type 6

modeled by Hsap\FUS^{R518K.UAS.Tag:HA}

(Casci et al., 2019)

modeled by Hsap\FUS^{R521C.UAS.Tag:HA}

(Casci et al., 2019)

modeled by Hsap\FUS^UAS.Tag:HA

(Casci et al., 2019)

Smn^f01109

model of childhood spinal muscular atrophy

is exacerbated by Mad¹²

(Chang et al., 2008)

is exacerbated by wit^UAS.cMa

(Chang et al., 2008)

Smn^HMC03832

model of spinal muscular atrophy

is ameliorated by Hsap\TGS1^UAS.cMa

(Chen et al., 2022)

is ameliorated by Tgs1^UASp.EGFP

(Chen et al., 2022)

model of childhood spinal muscular atrophy

is ameliorated by Tgs1^GD14932

(Maccallini et al., 2020)

Smn^NIG.16725R

exacerbates C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis

modeled by Zzzz\poly-GR^PO-36.UAS

(Park et al., 2021)

Smn^Tub.EGFP

ameliorates motor neuron disease

modeled by WDR79^MB10832

(Di Giorgio et al., 2017)

Smn^Δ

model of childhood spinal muscular atrophy

is ameliorated by CG10171^UAS.cLa

(Li et al., 2020)

is ameliorated by CG16984^UAS.cLa

(Li et al., 2020)

is ameliorated by Fas3^UAS.cLa

(Li et al., 2020)

is ameliorated by Pcyt2^UAS.cLa

(Li et al., 2020)

is ameliorated by Zmynd10^UAS.cLa

(Li et al., 2020)

Hsap\SMN1

Models Based on Experimental Evidence ( 1 )

Allele

Disease

Evidence

References

Hsap\SMN1^UAS.cMa

model of childhood spinal muscular atrophy

CEA

(Farrugia et al., 2022)

Modifiers Based on Experimental Evidence ( 0 )

Allele

Disease

Interaction

References

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\SMN1^{mini.UAS.pLUC}

P{UAS-hSMN1.mini.luc}

Hsap\SMN1^UAS.cMa

P{UAS-Hsap\SMN1.M}

Selected Drosophila transgenes

Allele

Transgene

Publicly Available Stocks

Smn^{S201A.v.Tag:FLAG}

Smn^{S201A.G206S.Tag:FLAG}

M{Smn.S201A.G206S.FLAG}

Smn^{S193I.ΔMGLR.v.Tag:FLAG}

M{FLAG-vSmn.S193I.DeltaMGLR}

Smn^{S197P.ΔMGLR.v.Tag:FLAG}

M{FLAG-vSmn.S197P.DeltaMGLR}

Smn^{Y204R.ΔMGLR.v.Tag:FLAG}

M{FLAG-vSmn.Y204R.DeltaMGLR}

Smn^{Y204H.ΔMGLR.v.Tag:FLAG}

M{FLAG-vSmn.Y204H.DeltaMGLR}

Smn^{Y204R.v.Tag:FLAG}

M{FLAG-vSmn.Y204R}

Smn^{Y204H.v.Tag:FLAG}

M{FLAG-vSmn.Y204H}

Smn^{L207Y,G210V.Tag:FLAG}

M{FLAG-Smn.L207Y,G210V}

RNAi constructs available

Allele

Transgene

Publicly Available Stocks

Smn^HMJ22740

P{TRiP.HMJ22740}

y¹ v¹; P{TRiP.HMJ22740}attP40/CyO

Smn^GD9191

P{GD9191}

w¹¹¹⁸; P{GD9191}v45447/TM3

Smn^JF02057

P{TRiP.JF02057}

y¹ v¹; P{TRiP.JF02057}attP2

Smn^KK106152

P{KK106152}

P{KK106152}VIE-260B

Smn^{RNAi.FL.UAS.WIZ}

y¹ sc^* v¹ sev²¹; P{TRiP.GL00581}attP2

y¹ sc^* v¹ sev²¹; P{TRiP.HMC03832}attP40

y¹ sc^* v¹ sev²¹; P{TRiP.HMS05688}attP2

Selected Drosophila classical alleles

Allele

Allele class

Mutagen

Publicly Available Stocks

Smn^Δ

amorphic allele - molecular evidence

CRISPR/Cas9

Smn^f05960

amorphic allele - genetic evidence

piggyBac activity

w¹¹¹⁸; PBac{WH}Smn^f05960/TM6B, Tb¹

Smn^73Ao

amorphic allele - molecular evidence

Smn^73Ao/TM6B, Tb¹

Smn^B

amorphic allele - genetic evidence

ethyl methanesulfonate

Smn^f01109

amorphic allele - genetic evidence

w¹¹¹⁸; PBac{WH}Smn^f01109

Smn^PL00733

Smn^X7

amorphic allele - molecular evidence

P-element activity

Smn^E33

P-element activity

Smn^E2

P-element activity

References (6)

Report Sections

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