FlyBase Allele Report: Dmel\Mhc[D45]

General Information

Symbol

Dmel\Mhc^D45

Species

D. melanogaster

Name

FlyBase ID

FBal0097224

Feature type

allele

Associated gene

Dmel\Mhc

Associated Insertion(s)

Carried in Construct

Also Known As

D45

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Kronert et al., 1999)

Progenitor genotype

Cytology

Description

Nucleotide substitution: G to A. Amino acid replacement: A to T. Mutation is in exon 5.

(Kronert et al., 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:16,770,953..16,770,953 [+]

Nucleotide change:

G16770953A

Reported nucleotide change:

G?A

Amino acid change:

Reported amino acid change:

A258T

(Bernstein and Zhang, 1999.11.18, Kronert et al., 1999)

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 cardiomyopathy

CEA

(Bloemink et al., 2011)

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 flight

(Cammarato et al., 2008)

abnormal flight | dominant

(Kronert et al., 1999)

abnormal flight | progressive

(Cammarato et al., 2008)

lethal | recessive

(Kronert et al., 1999)

Phenotype Manifest In

adult heart

(Cammarato et al., 2008)

adult heart | progressive

(Cammarato et al., 2008)

Detailed Description

Statement

Reference

Mhc^D45/Mhc^D45 flies have a significant decrease in initial flight ability and show a significant decrease in flight index over the 35 day period, though the rate of decline and overall decrease is less than in controls. Myofibrils are similar to wild type in the indirect flight muscle 2 days after eclosion. As early as 1 week after eclosion, Mhc^D45/Mhc^D45 hearts are dilated compared to wild type and display compromised shortening abilities and perturbed systolic function. 3 week old Mhc⁵/Mhc⁵ heart preparations show nonrhythmic beating patterns and arrhythmia becomes progressively worse by 4-5 weeks. At every age, mutant hearts show increases in diastolic and systolic distances; hearts show significant increases in both DI and SI.

(Cammarato et al., 2008)

Mhc^D45 mutants do not show abnormal behaviour at 38^oC.

(Montana and Littleton, 2004)

Heterozygotes show defects in flight ability.

(Kronert et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Mhc[+]/Mhc^D45 is a suppressor of visible phenotype of up¹⁰¹

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D45 is a suppressor of visible phenotype of wupA^hdp-2

(Nongthomba et al., 2003)

Mhc^D45 is a suppressor of visible | recessive phenotype of wupA^hdp-2

(Kronert et al., 1999)

Other

Statement

Reference

Mhc^D45, wupA^hdp-2 has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc^D45, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D45, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D45, wupA^hdp-2 has abnormal flight phenotype

(Nongthomba et al., 2003)

Phenotype Manifest In

Suppressor of

Statement

Reference

Mhc[+]/Mhc^D45 is a suppressor of indirect flight muscle cell phenotype of up¹⁰¹

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D45 is a suppressor of wing phenotype of up¹⁰¹

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D45 is a suppressor of indirect flight muscle cell phenotype of wupA^hdp-2

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D45 is a suppressor of wing phenotype of wupA^hdp-2

(Nongthomba et al., 2003)

Mhc^D45 is a suppressor of muscle cell of dorsal longitudinal indirect flight muscle 45c phenotype of wupA^hdp-2

(Kronert et al., 1999)

Mhc^D45 is a suppressor of muscle cell of dorsal longitudinal indirect flight muscle 45d phenotype of wupA^hdp-2

(Kronert et al., 1999)

Mhc^D45 is a suppressor of muscle cell of dorsal longitudinal indirect flight muscle 45e phenotype of wupA^hdp-2

(Kronert et al., 1999)

Mhc^D45 is a suppressor of muscle cell of dorsal longitudinal indirect flight muscle 45f phenotype of wupA^hdp-2

(Kronert et al., 1999)

Mhc^D45 is a suppressor of muscle cell of dorsal longitudinal indirect flight muscle 45a phenotype of wupA^hdp-2

(Kronert et al., 1999)

Mhc^D45 is a suppressor of muscle cell of dorsal longitudinal indirect flight muscle 45b phenotype of wupA^hdp-2

(Kronert et al., 1999)

NOT Suppressor of

Statement

Reference

Mhc¹²/Mhc^D45 is a non-suppressor of indirect flight muscle cell phenotype of wupA^hdp-3

(Nongthomba et al., 2003)

Additional Comments

Genetic Interactions

Statement

Reference

The defects seen in wupA^hdp-2 flies are suppressed by Mhc^D45/+; 7% of the double mutant adults have an upheld wing phenotype and 93% hold their wings in the normal position. The indirect flight muscle fibres have normal morphology. The defects seen in up¹⁰¹ flies are suppressed by Mhc^D45/+; 4% of the double mutant adults have an upheld wing phenotype and 96% hold their wings in the normal position. The indirect flight muscle fibres have normal morphology. 61% of wupA^hdp-3/Y ; Mhc¹²/Mhc^D45 flies have an upheld wing phenotype and 39% hold their wings normally.

(Nongthomba et al., 2003)

Dominant suppressor of the heldup wing phenotype of wupA^hdp-2; wupA^hdp-2/Y ; Mhc^D45/+ males have a near normal wing position, but cannot jump or fly. Dorsolongitudinal muscle (DLM) fibres a to c appear almost normal in these flies, but DLM muscles e and f have structural defects near the posterior end, and muscle d also appears abnormal. The number of thick filaments per fibril is slightly reduced compared to wild type. The fibrils appear particularly unstable at the periphery, where the lattice collapses.

(Kronert et al., 1999)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially complements

Mhc⁸

(Kronert et al., 1999)

Fails to complement

Mhc²

(Kronert et al., 1999)

Mhc¹

(Kronert et al., 1999)

Not rescued by

Mhc^D45 is not rescued by Mhc^+t41.9

(Kronert et al., 1999)

Comments

Mhc^D45 produces very few viable adults in combination with Mhc⁸.

(Kronert et al., 1999)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Selected as: a dominant suppressor of wupA^hdp-2.

(Kronert et al., 1999)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

D45

(Bloemink et al., 2011, Cammarato et al., 2008, Dambacher et al., 2005, Kronert et al., 1999)

Mhc^D45

Name Synonyms

Secondary FlyBase IDs

References (7)

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