FlyBase Allele Report: Dmel\Mef2[44-5]

General Information

Symbol

Dmel\Mef2^44-5

Species

D. melanogaster

Name

FlyBase ID

FBal0156252

Feature type

allele

Associated gene

Dmel\Mef2

Associated Insertion(s)

Carried in Construct

Also Known As

44-5

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Lovato et al., 2009)

Mutagen

ethyl methanesulfonate

(Goldstein et al., 2001)

diepoxybutane

(Goldstein et al., 2001)

gamma ray

(Goldstein et al., 2001)

Progenitor genotype

Cytology

Description

9bp insertion following intron 7 plus 44bp deletion from the 5' end of exon 8 (including the normal exon 8 splice acceptor site). Two distinct mutant transcripts are produced. The '44-5(7)' transcript retains intron 7, which includes a premature stop codon (UAA), and cryptically splices into the 45th nucleotide of exon 8; the translated protein from this transcript is predicted to contain translated sequence from the retained intron 7 sequence and to have a premature stop codon at amino acid 236. The '44-5(11)' transcript utilizes the normal 5' splice donor of exon 7, but splices cryptically into the 52nd nucleotide of exon 8; the translated protein from this transcript is predicted to contain an internal deletion of amino acids 219-241.

(Lovato et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2R:9,918,851..9,918,894 [-]

Comment:

Mef2^44-5 is a 44 base deletion that removes the splice acceptor site of intron 7 and part of exon 8.

(Lovato et al., 2009)

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

flightless | heat sensitive (with Mef2^30-5)

(Baker et al., 2005)

lethal (with Df(2R)X1)

(Goldstein et al., 2001)

lethal (with Mef2^22-21)

(Baker et al., 2005)

lethal (with Mef2^22-24)

(Baker et al., 2005)

lethal (with Mef2^25-34)

(Baker et al., 2005)

lethal (with Mef2^25-42)

(Baker et al., 2005)

lethal (with Mef2^26-6)

(Baker et al., 2005)

lethal (with Mef2^26-7)

(Baker et al., 2005)

lethal (with Mef2^48-7)

(Baker et al., 2005)

lethal (with Mef2^66-25)

(Baker et al., 2005)

lethal (with Mef2^78-11)

(Baker et al., 2005)

lethal | recessive

(Baker et al., 2005)

lethal - all die during embryonic stage (with Mef2^30-5)

(Baker et al., 2005)

lethal - all die during larval stage | heat sensitive (with Mef2^30-5)

(Baker et al., 2005)

lethal - all die during P-stage | heat sensitive (with Mef2^30-5)

(Baker et al., 2005)

partially lethal (with Mef2^26-49)

(Baker et al., 2005)

partially lethal (with Mef2^55-5)

(Baker et al., 2005)

partially lethal | heat sensitive (with Mef2^30-5)

(Baker et al., 2005)

Phenotype Manifest In

coxal tergal remotor muscle cell (with Mef2^30-5)

(Baker et al., 2005)

dorsal longitudinal indirect flight muscle cell | heat sensitive (with Mef2^30-5)

(Baker et al., 2005)

embryonic/larval dorsal vessel | heat sensitive (with Mef2^30-5)

(Baker et al., 2005)

larval somatic muscle cell | heat sensitive (with Mef2^30-5)

(Baker et al., 2005)

lateral oblique dorsal muscle cell (with Mef2^30-5)

(Baker et al., 2005)

lateral transverse muscle cell (with Mef2^30-5)

(Baker et al., 2005)

mesothoracic tergotrochanter muscle cell | heat sensitive (with Mef2^30-5)

(Baker et al., 2005)

muscle cell of A1-7 lateral transverse muscle 1 (with Mef2^30-5)

(Baker et al., 2005)

muscle cell of A1-7 lateral transverse muscle 2 (with Mef2^30-5)

(Baker et al., 2005)

muscle cell of A1-7 lateral transverse muscle 3 (with Mef2^30-5)

(Baker et al., 2005)

tergosternal muscle cell (with Mef2^30-5)

(Baker et al., 2005)

Detailed Description

Statement

Reference

Mef2^30-5/Mef2^44-5 embryos raised at 18^oC have numerous muscle fibres, although they are slightly reduced in number compared to wild-type. The dorsal vessel forms, but often has organisational defects. The number of lateral transverse muscles is reduced. Mef2^30-5/Mef2^44-5 embryos raised at 29^oC have a massively reduced number of muscle fibres. Lateral transverse muscles 1-3 are absent or reduced in number in all segments. The heart tube is not visible. 83.5% of Mef2^30-5/Mef2^44-5 adults that have been raised at 18^oC throughout their development show normal flight ability. Mef2^30-5/Mef2^44-5 adults that have been raised at 18^oC until hatching of the embryo and then shifted to 29^oC for the remainder of development cannot fly. Mef2^30-5/Mef2^44-5 adults that have been raised at 18^oC throughout their development have a similar dorsal longitudinal muscle (DLM) number and arrangement to wild-type flies. The number of dorsoventral muscle (DVM) fibres in these animals is similar to wild type, but some patterning defects are seen. The tergal depressor of the trochanter (TDT) muscle is nearly normal in structure, although some fibres look slightly irregular. Mef2^30-5/Mef2^44-5 adults that have been raised at 18^oC during embryogenesis and then shifted to 29^oC after hatching show a reduction in the number of DLM fibers and occasional fraying of the myofibrils is seen. The DVM defects seen in these flies is similar to that of Mef2^30-5/Mef2^44-5 adults that have been raised at 18^oC throughout their development. The TDT of Mef2^30-5/Mef2^44-5 adults that have been raised at 18^oC during embryogenesis and then shifted to 29^oC has fibres forming in the central lumen and many of the fibres are oddly shaped. The TDT is mislocalised in the thorax in these animals compared to wild type.