FlyBase Allele Report: Dmel\Med[C246]

General Information

Symbol

Dmel\Med^C246

Species

D. melanogaster

Name

FlyBase ID

FBal0156263

Feature type

allele

Associated gene

Dmel\Med

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

Nature of the Allele

Allele class

loss of function allele

(McCabe et al., 2004)

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: Y324term.

(McCabe et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:31,613,543..31,613,543 [+]

Nucleotide change:

T31613543G

Amino acid change:

Y398term | Med-PA; Y324term | Med-PB; Y398term | Med-PC

Reported amino acid change:

Y324term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change. Med-PB is only CDS with Y at position 324.

(McCabe et al., 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 ( 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

abnormal neuroanatomy

(McCabe et al., 2004)

abnormal neuroanatomy (with Df(3R)Kpn-A)

(McCabe et al., 2004)

abnormal neuroanatomy (with Med³)

(McCabe et al., 2004)

abnormal neurophysiology

(McCabe et al., 2004)

decreased body size | larval stage (with Df(3R)Kpn-A)

(McCabe et al., 2004)

Phenotype Manifest In

bouton

(McCabe et al., 2004)

bouton (with Df(3R)Kpn-A)

(McCabe et al., 2004)

bouton (with Med³)

(McCabe et al., 2004)

larval somatic muscle cell (with Df(3R)Kpn-A)

(McCabe et al., 2004)

neuromuscular junction

(McCabe et al., 2004)

neuromuscular junction (with Df(3R)Kpn-A)

(McCabe et al., 2004)

neuromuscular junction (with Med³)

(McCabe et al., 2004)

Detailed Description

Statement

Reference

Mutants show a dramatic reduction in the number of neuromuscular junction (NMJ) synaptic boutons. Med^C246/Df(3R)Kpn-A mutants show a dramatic decrease of both the elaboration and number of synaptic boutons at the 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 Med³/Med^C246 animals is 38.2 +/- 0.9% of wild type. The evoked excitatory junctional potential (EJP) (measured at muscle 6 of segment A3) shows a decrease in amplitude in homozygous animals compared to wild type. There is also a small but statistically significant reduction in miniature EJP amplitude compared to wild type. Quantal content is reduced compared to wild type.

(McCabe et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Med^C246/Med^C246 is a suppressor of abnormal neuroanatomy phenotype of hiw^EMS

(McCabe et al., 2004)

Other

Statement

Reference

Med^C246, wit^HA3/wit[+] has abnormal neuroanatomy | dominant phenotype

(McCabe et al., 2004)

Med[+]/Med^C246, wit^HA3 has abnormal neuroanatomy phenotype

(McCabe et al., 2004)

Phenotype Manifest In

Suppressor of

Statement

Reference

Med^C246/Med^C246 is a suppressor of bouton | increased number phenotype of hiw^EMS

(McCabe et al., 2004)

Med^C246/Med^C246 is a suppressor of neuromuscular junction phenotype of hiw^EMS

(McCabe et al., 2004)

Other

Statement

Reference

Med^C246, wit^HA3/wit[+] has bouton phenotype

(McCabe et al., 2004)

Med^C246, wit^HA3 has neuromuscular junction phenotype

(McCabe et al., 2004)

Med^C246, wit^HA3/wit[+] has neuromuscular junction phenotype

(McCabe et al., 2004)

Med^C246, wit^HA3 has bouton phenotype

(McCabe et al., 2004)

Additional Comments

Genetic Interactions

Statement

Reference

The number of synaptic boutons/muscle surface area at muscle 6/7 in Med^C246/wit^HA3 double heterozygotes is 91.3 +/- 2.7 % of wild type. The excessive synaptic bouton phenotype seen at the neuromuscular junction in hiw^EMS homozygotes is strongly suppressed by Med^C246/Med^C246. The boutons in the double mutant synapses are smaller than wild type and appear more similar to those seen in hiw^EMS single mutants.

(McCabe et al., 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Med^C246/Med³ is rescued by Med^UAS.cSa/Scer\GAL4^elav.PLu

(McCabe et al., 2004)

Not rescued by

Med^C246/Med³ is not rescued by Scer\GAL4^G14/Med^UAS.cSa

(McCabe et al., 2004)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Med^C246

(Berndt et al., 2020, Liao et al., 2018, Ball et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (4)

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