FlyBase Allele Report: Dmel\Mef2[22-21]

General Information

Symbol

Dmel\Mef2^22-21

Species

D. melanogaster

Name

FlyBase ID

FBal0033789

Feature type

allele

Associated gene

Dmel\Mef2

Associated Insertion(s)

Carried in Construct

Also Known As

Dmef2^22.21, D-mef2^22-21, Mef2^22.21, Dmef2^22-21, mef^22-21

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Bour et al., 1995, Bour et al., 1995)

Mutagen

ethyl methanesulfonate

(Goldstein et al., 2001, Bour et al., 1995, Bour et al., 1995)

diepoxybutane

(Goldstein et al., 2001)

gamma ray

(Goldstein et al., 2001)

Progenitor genotype

Cytology

Description

Amino acid replacement: Q7term.

(Prokop et al., 1996, Bour et al., 1995)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:9,921,645..9,921,645 [-]

Nucleotide change:

C9921645T

Amino acid change:

Reported amino acid change:

Q7term

Comment:

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

(Bour et al., 1995)

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 ( 1 )

Disease

Interaction

References

ameliorates alveolar rhabdomyosarcoma

modeled by Hsap\FOXO1::Hsap\PAX7^UAS.cGa

(Galindo et al., 2014)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

lethal (with Df(2R)X1)

(Goldstein et al., 2001)

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 Mef2^26-49)

(Baker et al., 2005)

lethal (with Mef2^30-5)

(Baker et al., 2005)

lethal (with Mef2^44-5)

(Baker et al., 2005)

lethal (with Mef2^48-7)

(Baker et al., 2005)

lethal (with Mef2^55-5)

(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 | recessive

(Bour et al., 1995)

some die during embryonic stage | recessive

(Bour et al., 1995)

Phenotype Manifest In

embryonic/larval heart | embryonic stage

(Bour et al., 1995)

embryonic/larval midgut | embryonic stage

(Gunthorpe et al., 1999, Bour et al., 1995)

embryonic midgut constriction

(Gunthorpe et al., 1999)

embryonic myoblast

(Prokop et al., 1996)

larval intersegmental nerve

(Landgraf et al., 1999)

larval somatic muscle cell

(Martin-Bermudo and Brown, 2000, Gunthorpe et al., 1999, Prokop et al., 1996)

muscle attachment site

(Martin-Bermudo and Brown, 2000)

muscle cell of A1-7 dorsal acute muscle 1 | embryonic stage 15

(Menon et al., 2005)

muscle founder cell

(Landgraf et al., 1999)

muscle founder cell | embryonic stage

(Prokop et al., 1996)

myoblast

(Landgraf et al., 1999)

neuromuscular junction | embryonic stage

(Prokop et al., 1996)

pharyngeal muscle cell

(Gunthorpe et al., 1999)

presumptive embryonic/larval muscle system

(Menon et al., 2005)

somatic muscle cell

(Bour et al., 1995)

Detailed Description

Statement

Reference

The extent of myoblast fusion in Mef2^22-21 mutant embryos is significantly reduced compared to wild type.

(Menon et al., 2005)

Multinucleate muscles form to some degree in mutant embryos, but do not attach properly.

(Martin-Bermudo and Brown, 2000)

Homozygous embryos fail to form differentiated muscle fibres. The midgut fails to constrict. The structure of the heart forms and appears normal. The pharyngeal muscle forms but its morphology is severely affected.

(Gunthorpe et al., 1999)

In mutant embryos, in the absence of ventral vg-expressing muscle founder cells, ISNb fails to defasciculate from ISN and continues to grow dorsally. If even only one founder cell is present, ISNb defasciculates as a bundle and grows to contact the founder cell.

(Landgraf et al., 1999)

Muscle founder cells of Mef2^22-21/Df(2R)520 transheterozygotes never differentiate to form mononucleate muscles. Con, vg or Fas3-expressing founder cells show that target recognition takes place and motoneurons that establish contact are always attracted to the correct founder cells. Myoblast fusion and Mhc and βTub60D expression are severely affected, thus general features of differentiated muscle are deranged or missing. Normal neuromuscular junctions are wholly absent.

(Prokop et al., 1996)

Embryonic lethal when heterozygous with Df(2R)520. Embryos exhibit lack of Mhc-expressing cells and lack of muscle fibres. Midgut morphogenesis and late heart differentiation are also defective.

(Bour et al., 1995)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Mef2[+]/Mef2^22-21 is a suppressor of partially lethal - majority die phenotype of Hsap\FOXO1::Hsap\PAX7^UAS.cGa, Scer\GAL4^Mhc.PW

(Galindo et al., 2014)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Rescued by

Mef2^22-21 is rescued by Scer\GAL4^how-24B/Mef2^I.UAS

(Gunthorpe et al., 1999)

Mef2^22-21 is rescued by Mef2^IV.UAS/Scer\GAL4^how-24B

(Gunthorpe et al., 1999)

Mef2^22-21 is rescued by Scer\GAL4^how-24B/Mef2^III.UAS

(Gunthorpe et al., 1999)

Mef2^22-21 is rescued by Scer\GAL4^how-24B/Mef2^II.UAS

(Gunthorpe et al., 1999)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

78327

Adh^fn23 cn¹ pr¹ Mef2^22-21/CyO

Notes on Origin

Discoverer

Comments

"ethyl methanesulfonate" was stated as tentative. "diepoxybutane" was stated as tentative. "γ ray" was stated as tentative.

(Goldstein et al., 2001)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (12)

Reported As

Symbol Synonym

22-21

(Goldstein, 2004.3.15, Goldstein et al., 2001)

22.21

(Goldstein, 2004.3.15)

D-mef2 ^22-21

(Bulchand et al., 2010)

D-mef2^22-21

(Menon et al., 2005, Bagni et al., 2002, Damm et al., 1998)

Dmef2^22-21

(Apitz et al., 2005, Sokol and Ambros, 2005)

Dmef2^22.21

(Wong et al., 2008, Taylor, 2000, Gunthorpe et al., 1999, Artero et al., 1998)

Mef2^22-21

(Reim, 2024.4.19, Domsch et al., 2021, Galindo et al., 2014, Duan et al., 2007)

Mef2^22.21

(Cunha et al., 2010, Sandmann et al., 2006)

mef2^2.21

(Nachman et al., 2015)

mef2^22-21

(Crittenden et al., 2018, Bour et al., 2000, Landgraf et al., 1999)

mef2^22.21

(Nachman et al., 2015)

mef^22-21

(Martin-Bermudo and Brown, 2000, Stronach et al., 1999)

Name Synonyms

Secondary FlyBase IDs

References (30)

Report Sections

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