Atp6v1b1^vtx
Spontaneous Allele Detail

Summary

• Symbol: Atp6v1b1^vtx
• 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: Atp6v1b1^vtx page

Mutation origin

• Strain of Origin: MRL/MpJ-Fas^lpr/J

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: This 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

Disease models

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)