FlyBase Allele Report: Dmel\Mad[1]

General Information

Symbol

Dmel\Mad¹

Species

D. melanogaster

Name

FlyBase ID

FBal0044913

Feature type

allele

Associated gene

Dmel\Mad

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

gain of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Sekelsky et al., 1995)

gain of function allele

(Takaesu et al., 2005)

Mutagen

ethyl methanesulfonate

(Sekelsky et al., 1995)

Progenitor genotype

Cytology

Description

Amino acid replacement: Q90L.

(Takaesu et al., 2005)

Nucleotide substitution: A615T.

(Takaesu et al., 2005)

Point mutation.

(Sekelsky et al., 1995)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:3,148,805..3,148,805 [-]

Nucleotide change:

A3148805T

Reported nucleotide change:

A615T

Amino acid change:

Q90L | Mad-PA; Q160L | Mad-PB

Reported amino acid change:

Q90L

(Takaesu et al., 2005)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

bouton (with Df(2L)C28)

(McCabe et al., 2004)

embryonic/larval neuromuscular junction | third instar larval stage (with Mad^k00237)

(Ball et al., 2010)

histoblast | somatic clone

(Ninov et al., 2010)

histoblast nest | somatic clone

(Ninov et al., 2010)

larval somatic muscle cell (with Mad^B65)

(McCabe et al., 2004)

neuromuscular junction (with Df(2L)C28)

(McCabe et al., 2004)

neuromuscular junction (with Mad^B65)

(McCabe et al., 2004)

NMJ bouton | third instar larval stage (with Mad^k00237)

(Ball et al., 2010)

Detailed Description

Statement

Reference

Heterozygotes do not display defects in neuromuscular junction expansion.

(James and Broihier, 2011)

Mad¹/Mad^k00237 third instar larvae show a reduced number of boutons per muscle surface area in muscle 4 compared to controls.

(Ball et al., 2010)

Mad¹ clones generated in larval histoblast cells display reduced contact to the nest edge, and typical histoblast invasive behaviour is not observed. Mutant histoblasts proliferate at normal rates and do not delaminate or die.

(Ninov et al., 2010)

Mad¹/Mad^B65 animals show a reduction in size of the neuromuscular junction (NMJ) compared to wild type. Larvae show a reduction in body size, including muscle size. The number of synaptic boutons/muscle surface area at muscle 6/7 in Mad¹/Df(2L)C28 animals is 53.7 +/- 1.3% of wild type. The evoked excitatory junctional potential (EJP) (measured at muscle 6 of segment A3) shows a decrease in amplitude in Mad¹/Mad¹² animals compared to wild type. Quantal content is reduced compared to wild type.

(McCabe et al., 2004)

Mutation affects a transvection-sensitive dpp phenotype. Larval heterozygotes with Df(2L)JS17 exhibit reduced fat body, midgut defects and greatly reduced gastric caecae and dissected pupae exhibit absent or severely reduced imaginal discs.

(Sekelsky et al., 1995)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Mad^k00237/Mad¹ has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^BG380/trio^UAS.cBa

(Ball et al., 2010)

NOT suppressed by

Statement

Reference

Mad^k00237/Mad¹ has abnormal size | third instar larval stage phenotype, non-suppressible by Scer\GAL4^BG380/Rac1^UAS.Tag:MYC

(Ball et al., 2010)

Mad^k00237/Mad¹ has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Scer\GAL4^BG380/Rac1^UAS.Tag:MYC

(Ball et al., 2010)

Enhancer of

Statement

Reference

Mad¹ is an enhancer of partially lethal - majority die phenotype of Neto¹⁰⁹

(Sulkowski et al., 2014)

Suppressor of

Statement

Reference

Mad^k00237/Mad¹ is a suppressor of abnormal size | third instar larval stage phenotype of Rac1^UAS.Tag:MYC, Scer\GAL4^BG380

(Ball et al., 2010)

Mad^k00237/Mad¹ is a suppressor of abnormal neuroanatomy | third instar larval stage phenotype of Rac1^UAS.Tag:MYC, Scer\GAL4^{elav.Switch.PO}

(Ball et al., 2010)

NOT Suppressor of

Statement

Reference

Mad^k00237/Mad¹ is a non-suppressor of abnormal size | third instar larval stage phenotype of Rac1^V12.UAS, Scer\GAL4^BG380

(Ball et al., 2010)

Mad^k00237/Mad¹ is a non-suppressor of abnormal neuroanatomy | third instar larval stage phenotype of Rac1^V12.UAS, Scer\GAL4^BG380

(Ball et al., 2010)

Other

Statement

Reference

Mad¹, dpp^s6/dpp^hr4 has lethal phenotype

(Takaesu et al., 2005)

Mad¹, wit^HA3/wit[+] has abnormal neuroanatomy | dominant phenotype

(McCabe et al., 2004)

Mad[+]/Mad¹, wit^HA3 has abnormal neuroanatomy phenotype

(McCabe et al., 2004)

Phenotype Manifest In

Suppressed by

Statement

Reference

Mad^k00237/Mad¹ has embryonic/larval neuromuscular junction | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^BG380/trio^UAS.cBa

(Ball et al., 2010)

Mad^k00237/Mad¹ has NMJ bouton | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^BG380/trio^UAS.cBa

(Ball et al., 2010)

NOT suppressed by

Statement

Reference

Mad^k00237/Mad¹ has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-suppressible by Scer\GAL4^BG380/Rac1^UAS.Tag:MYC

(Ball et al., 2010)

Mad^k00237/Mad¹ has NMJ bouton | third instar larval stage phenotype, non-suppressible by Scer\GAL4^BG380/Rac1^UAS.Tag:MYC

(Ball et al., 2010)

Enhancer of

Statement

Reference

Mad¹ is an enhancer of wing vein phenotype of dpp^s6/dpp^hr4

(Takaesu et al., 2005)

Mad¹ is an enhancer of phenotype of dpp^e87

(Sekelsky et al., 1995)

Mad¹ is an enhancer of phenotype of dpp^hr56

(Sekelsky et al., 1995)

Suppressor of

Statement

Reference

Mad[+]/Mad¹ is a suppressor | partially of type I bouton | increased number | third instar larval stage phenotype of cmpy^Δ8

(James and Broihier, 2011)

Mad^k00237/Mad¹ is a suppressor of NMJ bouton | third instar larval stage phenotype of Rac1^UAS.Tag:MYC, Scer\GAL4^BG380

(Ball et al., 2010)

Mad^k00237/Mad¹ is a suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of Rac1^UAS.Tag:MYC, Scer\GAL4^BG380

(Ball et al., 2010)

Mad[+]/Mad¹ is a suppressor of wing phenotype of tkv^TAJ3

(Hoodless et al., 1996)

NOT Suppressor of

Statement

Reference

Mad^k00237/Mad¹ is a non-suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of Rac1^V12.UAS, Scer\GAL4^BG380

(Ball et al., 2010)

Mad^k00237/Mad¹ is a non-suppressor of NMJ bouton | third instar larval stage phenotype of Rac1^V12.UAS, Scer\GAL4^BG380

(Ball et al., 2010)

Other

Statement

Reference

Mad¹, wit^HA3/wit[+] has bouton phenotype

(McCabe et al., 2004)

Mad¹, wit^HA3/wit[+] has neuromuscular junction phenotype

(McCabe et al., 2004)

Mad¹, wit^HA3 has bouton phenotype

(McCabe et al., 2004)

Mad¹, wit^HA3 has neuromuscular junction phenotype

(McCabe et al., 2004)

Additional Comments

Genetic Interactions

Statement

Reference

The neuromuscular junction expansion phenotype seen in cmpy^Δ8 mutants is partially suppressed when animals are also heterozygous for Mad¹.

(James and Broihier, 2011)

Expression of Mad¹/Mad^k00237 suppresses the larval neuromuscular junction overgrowth and bouton number phenotypes seen when Rac1^{Scer\UAS.T:Hsap\MYC} is expressed in motor neurons under the control of Scer\GAL4^BG380, instead producing a reduction in bouton number similar to the phenotype seen in Mad¹/Mad^k00237 third instar larvae.

Expression of Mad¹/Mad^k00237 fails to suppress the larval neuromuscular junction overgrowth and bouton number phenotypes seen when Rac1^V12.Scer\UAS is expressed in motor neurons under the control of Scer\GAL4^BG380.

Expression of trio^Scer\UAS.cBa in motor neurons under the control of Scer\GAL4^BG380 partially suppresses the reduced bouton number phenotype seen in Mad¹/Mad^k00237 larval neuromuscular junctions.

(Ball et al., 2010)

dpp^s6/dpp^hr4 Mad¹ flies exhibit L4 and L5 wing vein defects in almost 100% of cases. Approximately 10% of wings with L4 and L5 defects exhibit missing crossveins (anterior, posterior, or both) and small wing margin notches. This indicates an enhancement of the dpp^s6/dpp^hr4 phenotype by Mad¹.

Only 71% of the expected dpp^s6/dpp^hr4 Mad¹ progeny are recovered, indicating a statistically significant amount of lethality.

(Takaesu et al., 2005)

The number of synaptic boutons/muscle surface area at muscle 6/7 in Mad¹/wit^HA3 double heterozygotes is 95.9 +/- 2.2 % of wild type.

(McCabe et al., 2004)

Heterozygosity for Mad¹ or Mad⁶ almost completely suppresses the blistered wing phenotype of tkv^TAJ3.

(Hoodless et al., 1996)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Mad¹²/Mad¹ is rescued by Scer\GAL4^da.G32/Mad^UAS.N.YFP

(Smith et al., 2012)

Df(2L)C28/Mad¹ is rescued by Mad^UAS.cNa/Scer\GAL4^elav.PLu

(McCabe et al., 2004)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

Mad mutations can be placed in an allelic series based on relative severity of the maternal effect enhancement of weak dpp alleles: Mad¹ < Mad⁷ < Mad¹² < Mad¹⁰ < Mad⁵ < Mad³ < Mad² < Mad¹¹ < Mad⁶ < Mad⁴ < Mad⁸ < Mad⁹.

(Sekelsky et al., 1995)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Mad1

(Ninov et al., 2010)

Mad¹

(Smith et al., 2012, James and Broihier, 2011, Ball et al., 2010, Takaesu et al., 2005)

mad¹

(Sulkowski et al., 2014)

Name Synonyms

Secondary FlyBase IDs

References (10)

Report Sections

Open Close