Vps54^wr
Spontaneous Allele Detail

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

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)