Adgrv1^m1
Spontaneous Allele Detail

Summary

• Symbol: Adgrv1^m1
• Name: adhesion G protein-coupled receptor V1; mutation 1
• MGI ID: MGI:6508388
• Gene: Adgrv1 Location: Chr13:81243187-81781273 bp, - strand Genetic Position: Chr13, 42.18 cM
• Alliance: Adgrv1^m1 page

Mutation origin

• Strain of Origin: KM/Zzng

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: This spontaneous single nucleotide deletion (c.6748Gdel) in exon 31, found in the Kunming strain, causes a frameshift and premature stop codon (TAA) in place of valine codon 2250 (p.V2250*fs*1). (J:273686)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Adgrv1 Mutation: 318 strains or lines available

References

• Original: J:273686 Yan W, et al., A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains. Cell Physiol Biochem. 2018;47(5):1883-1897
• All: 2 reference(s)