FlyBase Allele Report: Dmel\hiw[ND51]

General Information

Symbol

Dmel\hiw^ND51

Species

D. melanogaster

Name

FlyBase ID

FBal0118200

Feature type

allele

Associated gene

Dmel\hiw

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Wan et al., 2000)

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: G2054R.

(Wan et al., 2000)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:15,054,232..15,054,232 [-]

Nucleotide change:

G15054232A

Amino acid change:

G2054R | hiw-PA; G2054R | hiw-PB

Reported amino acid change:

G2054R

Comment:

The site of the nucleotide substitution in the mutant was inferred by FlyBase based on the reported amino acid change.

(Wan et al., 2000)

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 | larval stage

(Brace et al., 2014)

abnormal neuroanatomy | third instar larval stage

(Wu et al., 2007)

Phenotype Manifest In

embryonic/larval neuromuscular junction

(Tian et al., 2011, Wu et al., 2007)

embryonic/larval neuromuscular junction | larval stage

(Brace et al., 2014)

NMJ bouton

(Tian et al., 2011)

NMJ bouton | increased number

(Wu et al., 2007)

NMJ bouton | larval stage

(Brace et al., 2014)

synapse

(Tian et al., 2011)

Detailed Description

Statement

Reference

Mutant larvae show a modest but significant increase in the number of boutons at the neuromuscular junction compared to wild type

(Brace et al., 2014)

Homozygous hiw^ND51 mutants exhibit a statistically significant increase in bouton number for muscle 4 synapses compared to controls.

(Tian et al., 2011)

Mutant larvae show mild synaptic terminal overgrowth at the neuromuscular junction.

(Wu et al., 2007)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

hiw^ND51 has abnormal neuroanatomy | larval stage phenotype, enhanceable by SkpA^GD65

(Brace et al., 2014)

hiw^ND51 has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by Fsn^f06595

(Wu et al., 2007)

Phenotype Manifest In

Enhanced by

Statement

Reference

hiw^ND51 has NMJ bouton | larval stage phenotype, enhanceable by SkpA^GD65

(Brace et al., 2014)

hiw^ND51 has embryonic/larval neuromuscular junction | larval stage phenotype, enhanceable by SkpA^GD65

(Brace et al., 2014)

hiw^ND51 has embryonic/larval neuromuscular junction phenotype, enhanceable by Rae1[+]/Rae1^EX28

(Tian et al., 2011)

hiw^ND51 has synapse phenotype, enhanceable by Rae1[+]/Rae1^EX28

(Tian et al., 2011)

hiw^ND51 has NMJ bouton phenotype, enhanceable by Rae1[+]/Rae1^EX28

(Tian et al., 2011)

hiw^ND51 has embryonic/larval neuromuscular junction phenotype, enhanceable by Fsn^f06595

(Wu et al., 2007)

hiw^ND51 has NMJ bouton | increased number phenotype, enhanceable by Fsn^f06595

(Wu et al., 2007)

Additional Comments

Genetic Interactions

Statement

Reference

The synaptic overgrowth phenotype (increase in bouton number) seen at the neuromuscular junction in hiw^ND51 mutants is dramatically enhanced in hiw^ND51 SkpA^GD65 double mutants.

hiw^ND51 SkpA^GD65 double mutant larvae show a decrease in excitatory junctional potential amplitude and in quantal content compared to wild type.

(Brace et al., 2014)

A Rae1^EX28 heterozygous background enhances neuromuscular overgrowth on muscle 4 in hiw^ND51 mutants, with a concomitant statistically significant increase in the number of boutons.

(Tian et al., 2011)

hiw^ND51 Fsn^f06595 double mutant larvae have dramatically overgrown synapses at the neuromuscular junction, with a significant increase in the number of boutons compared to the hiw^ND51 single mutant and an enhancement of synaptic branching.

(Wu et al., 2007)

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

hiw^ND51

(Brace et al., 2014, Tian et al., 2011, Wu et al., 2007)

Name Synonyms

Secondary FlyBase IDs

References (4)

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