FlyBase Allele Report: Dmel\Mhc[S2]

General Information

Symbol

Dmel\Mhc^S2

Species

D. melanogaster

Name

FlyBase ID

FBal0191683

Feature type

allele

Associated gene

Dmel\Mhc

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Montana and Littleton, 2004)

Progenitor genotype

Cytology

Description

Amino acid replacement: E187K.

(Montana and Littleton, 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:16,770,667..16,770,667 [+]

Nucleotide change:

G16770667A

Amino acid change:

Reported amino acid change:

E187K

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Montana and Littleton, 2004)

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 ( 1 )

Disease

Evidence

References

model of myopathy

CEA

(Montana and Littleton, 2006)

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

abnormal behavior | dominant | heat sensitive

(Montana and Littleton, 2004)

abnormal neurophysiology | recessive

(Montana and Littleton, 2004)

flightless | dominant

(Montana and Littleton, 2004)

lethal

(Montana and Littleton, 2004)

Phenotype Manifest In

indirect flight muscle cell | heat sensitive

(Montana and Littleton, 2004)

mesothoracic leg | heat sensitive

(Montana and Littleton, 2004)

Detailed Description

Statement

Reference

Mhc^S2 adults exhibit dominant temperature-sensitive behavioural defects that include a rapid onset of seizure-like behaviour and temperature-sensitive loss of mesothoracic leg function. This behaviour is readily evident in all flies by 1 min of exposure to 38^oC. Mhc^S2 mutants also display defects at permissive temperatures. Mhc^S2/+ flies are flightless, with thoracic indentations. Homozygous Mhc^S2 mutants are lethal. Correlating with the behavioural defects, abnormal spiking activity in the dorsal longitudinal muscles is observed at restrictive temperatures (38^oC) in Mhc^S2/+ mutants. Type I glutamatergic motor neurons innervation is not altered in Mhc^S2/+ mutant third instar larvae. However, ectopic type II synapse innervation is more frequent in Mhc^S2/+ mutants.

(Montana and Littleton, 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Mhc^S2 has lethal phenotype, suppressible by Swg^X118/Swg[+]

(Montana and Littleton, 2004)

Mhc^S2 has abnormal neurophysiology | heat sensitive phenotype, suppressible by para^ts1

(Montana and Littleton, 2004)

Other

Statement

Reference

Brkd^J29, Mhc^S2 has lethal phenotype

(Montana and Littleton, 2004)

Brkd[+]/Brkd^J29, Mhc^S2 has lethal phenotype

(Montana and Littleton, 2004)

Mhc^S2, up¹⁰¹ has lethal phenotype

(Montana and Littleton, 2004)

Mhc^S2, wupA^hdp-2 has lethal phenotype

(Montana and Littleton, 2004)

Phenotype Manifest In

Suppressed by

Statement

Reference

Mhc^S2 has indirect flight muscle cell | heat sensitive phenotype, suppressible by para^ts1

(Montana and Littleton, 2004)

Other

Statement

Reference

Mhc^S2, wupA^hdp-2 has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Mhc^S2, Swg^X118/Swg[+] has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Mhc^S2, up[+]/up¹⁰¹ has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Mhc^S2, wupA[+]/wupA^hdp-2 has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Mhc^S2, Swg^X118 has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Mhc^S2, up¹⁰¹ has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Additional Comments

Genetic Interactions

Statement

Reference

Double heterozygotes of Mhc^S2 and Swg^X118 are semi-lethal with escapers having hypercontracted femurs. Double heterozygotes of Mhc^S2 and Brkd^J29 are synthetic lethal. Suppression of Mhc^S2 seizure activity is observed in para^ts1; Mhc^S2/+ double mutant hemizygous males at 38^oC. Hemizygous flies for up¹⁰¹ and heterozygous for Mhc^S1 are synthetic lethal, whereas double heterozygous females have femur hypercontraction defects. Hemizygous flies for wupA^hdp-2 and heterozygous for Mhc^S1 are synthetic lethal, whereas double heterozygous females have femur hypercontraction defects.

(Montana and Littleton, 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Mhc^S2

(Montana and Littleton, 2006)

Samba²

(Montana and Littleton, 2004)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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