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Vps54wr
Spontaneous Allele Detail
Summary
Symbol: Vps54wr
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: Vps54wr page
Mutation
origin
Strain of Origin:  C57BL/Fa
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 153 assay results
In Structures Affected by this Mutation: 12 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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory