FlyBase Allele Report: Dmel\wit[HA4]

General Information

Symbol

Dmel\wit^HA4

Species

D. melanogaster

Name

FlyBase ID

FBal0133964

Feature type

allele

Associated gene

Dmel\wit

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Aberle et al., 2002)

Mutagen

ethyl methanesulfonate

(Aberle et al., 2002)

Progenitor genotype

Cytology

Description

Amino acid replacement: K482term.

(Aberle et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:4,066,574..4,066,574 [-]

Nucleotide change:

A4066574T

Amino acid change:

K482term | wit-PA; K482term | wit-PB

Reported amino acid change:

K482term

Comment:

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

(Aberle et al., 2002)

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 (with wit^HA5)

(Aberle et al., 2002)

abnormal neurophysiology (with wit^HA5)

(Aberle et al., 2002)

Phenotype Manifest In

bouton (with wit^HA5)

(Aberle et al., 2002)

embryonic/larval muscle system (with wit^HA5)

(Aberle et al., 2002)

neuromuscular junction (with wit^HA5)

(Aberle et al., 2002)

Detailed Description

Statement

Reference

The neuromuscular junctions of wit^HA4/wit^HA5 larvae have approximately wild-type quantal content, and excitatory postsynaptic potential (EPSP) and mini-EPSP amplitudes.

(Haghighi et al., 2003)

In wit^HA4/wit^HA5 mutant larvae, the number of synaptic boutons seen on dorsal muscle 1 are approximately reduced by 55% compared to wild-type. The muscle surface area is on average 12% smaller. Muscles 2, 9 and 10 also exhibit similar phenotypes. In wit^HA4/wit^HA5 third instar larvae the evoked excitatory junction potentials are greatly reduced reaching only 10% of those seen in wild-type. The amplitude of spontaneous miniature excitatory junction potentials (mEJPs) is also reduced in mutants by about a quarter. The frequency of spontaneous release in the absence of stimulation is also approximately halved. Mutant synapses relases 7-fold less neurotransmitter than wild-type.

(Aberle et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

wit^HA4 is a suppressor of abnormal neuroanatomy phenotype of hiw^EMS

(McCabe et al., 2004)

wit^HA4/wit^HA5 is a suppressor of abnormal neurophysiology phenotype of GluRIIA^{M614R.UAS.Tag:MYC}, Scer\GAL4^C142

(Haghighi et al., 2003)

wit^HA4/wit^HA5 is a suppressor | partially of abnormal neurophysiology phenotype of Rat\CaMKIINα^I.UAS.cHa, Scer\GAL4^C142

(Haghighi et al., 2003)

Other

Statement

Reference

GluRIIA^{M614R.UAS.Tag:MYC}, Scer\GAL4^C142, wit^HA4/wit^HA5 has abnormal neurophysiology phenotype

(Haghighi et al., 2003)

Phenotype Manifest In

Suppressor of

Statement

Reference

wit^HA4 is a suppressor of bouton | increased number phenotype of hiw^EMS

(McCabe et al., 2004)

wit^HA4 is a suppressor of neuromuscular junction phenotype of hiw^EMS

(McCabe et al., 2004)

Additional Comments

Genetic Interactions

Statement

Reference

The excessive synaptic bouton phenotype seen at the neuromuscular junction in hiw^EMS homozygotes is strongly suppressed by wit^HA4. In some cases the synaptic span in these double mutants is still slightly larger than wild type. 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)

wit^HA4/wit^HA5 suppresses the increase in quantal content seen in the neuromuscular junctions of GluRIIA^{M614R.Scer\UAS.T:Hsap\MYC}; Scer\GAL4^C142 larvae. (Data from electrophysiological recordings made from muscle 6 in segment A3 of wandering 3rd instar larvae). The excitatory postsynaptic potential (EPSP) and mini-EPSP amplitudes are significantly decreased in wit^HA4/wit^HA5 larvae by the presence of GluRIIA^{M614R.Scer\UAS.T:Hsap\MYC} with Scer\GAL4^C142. (Data from electrophysiological recordings made from muscle 6 in segment A3 of wandering 3rd instar larvae).

(Haghighi et al., 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

wit^HA2/wit^HA4 is rescued by Scer\GAL4^elav-C155/wit^UAS.cMa

(Aberle et al., 2002)

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

wit^HA4

(Liao et al., 2018, Xiong et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (5)

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