Vps54<wr> Spontaneous Allele Detail MGI Mouse (MGI:1857091)

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Vps54^wr
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Vps54^wr
Name:	VPS54 GARP complex subunit; wobbler
MGI ID:	MGI:1857091
Synonyms:	wr
Gene:	Vps54 Location: Chr11:21189281-21271136 bp, + strand Genetic Position: Chr11, 13.89 cM, cytoband A3
Alliance:	Vps54^wr page

Mutation
origin

Strain of Origin:

C57BL/Fa

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: A T-to-A transversion occurs in the second position of codon 967 in exon 23. This results in a leucine to glutamine amino acid substitution at position 967 (p.L967Q). Gene splicing is not affected by this mutation. All three normal transcripts are detected. (J:104824)
Inheritance:		Recessive

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	153 assay results
In Structures Affected by this Mutation:	11 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Vps54 Mutation:	284 strains or lines available

References

Original:	J:165 Falconer DS, Wobbler (wr). Mouse News Lett. 1956;15:23
All:	117 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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