FlyBase Allele Report: Dmel\wit[HA5]

General Information

Symbol

Dmel\wit^HA5

Species

D. melanogaster

Name

FlyBase ID

FBal0133963

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: R524term.

(Aberle et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

MNV

3L:4,066,446..4,066,448 [-]

Nucleotide change:

CGC4066448TGA

Amino acid change:

R524term | wit-PA; R524term | wit-PB

Reported amino acid change:

R524term

Comment:

The reported Arg to Stop amino acid change (CGC to TGA) requires nucleotide changes at two positions of the codon. The site of the nucleotide substitution in the mutant was inferred by FlyBase based on the 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^HA2)

(Aberle et al., 2002)

abnormal neuroanatomy (with wit^HA4)

(Aberle et al., 2002)

abnormal neurophysiology (with wit^HA4)

(Aberle et al., 2002)

Phenotype Manifest In

bouton (with wit^HA2)

(Aberle et al., 2002)

bouton (with wit^HA4)

(Aberle et al., 2002)

embryonic/larval muscle system (with wit^HA2)

(Aberle et al., 2002)

embryonic/larval muscle system (with wit^HA4)

(Aberle et al., 2002)

neuromuscular junction (with wit^HA2)

(Aberle et al., 2002)

neuromuscular junction (with wit^HA4)

(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 or wit^HA2/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. In wit^HA5 homozygous mutants, the Ca²⁺ cooperativity at the neuromuscular junction appears normal. Neuromuscular synapses in wit^HA2/wit^HA5 mutant larvae have active zones with T-bars, synaptic vesicles both free within the bouton and clustered around the T-Bars, and other features that appear wild-type. A smaller population of vesicles larger and distinct from the synaptic vesicles is seen. An unusual ruffling of the presynaptic membrane in active zones, about 44% of the presynaptic membrane is detached from the postsynaptic membrane. A novel electron dense structure associated with a tight cluster of vesicles are seen; about 2.4 of these are seen per bouton. Although wit^HA2/wit^HA5 boutons are approximately the same size as wild-type, the surface area per active zone is 2-fold greater in mutants. In addition the number of T-bars per active zone is 2-fold greater in mutants. The bouton surface area per T-bar is wild-type, however.

(Aberle et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

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

Additional Comments

Genetic Interactions

Statement

Reference

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

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^HA5

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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