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Atp6v1b1vtx
Spontaneous Allele Detail
Summary
Symbol: Atp6v1b1vtx
Name: ATPase, H+ transporting, lysosomal V1 subunit B1; vortex
MGI ID: MGI:5469980
Gene: Atp6v1b1  Location: Chr6:83719999-83735837 bp, + strand  Genetic Position: Chr6, 35.94 cM
Alliance: Atp6v1b1vtx page
Mutation
origin
Strain of Origin:  MRL/MpJ-Faslpr/J
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThis spontaneous G to A transition in exon 3 (c.233G>A) replaces a highly conserved glycine with an aspartic acid at amino acid 78 in the amino terminal domain. (J:243701)
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 Structures Affected by this Mutation: 10 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Atp6v1b1 Mutation:  32 strains or lines available
References
Original:  J:243701 Tian C, et al., Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts. Hum Mol Genet. 2017 Oct 1;26(19):3722-3735
All:  1 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
07/05/2024
MGI 6.24
The Jackson Laboratory