Atp6v0a4^tm1.1Fekf
Targeted Allele Detail

Summary

• Symbol: Atp6v0a4^tm1.1Fekf
• Name: ATPase, H+ transporting, lysosomal V0 subunit A4; targeted mutation 1.1, Fiona E Karet Frankl
• MGI ID: MGI:5441584
• Gene: Atp6v0a4 Location: Chr6:38025418-38101521 bp, - strand Genetic Position: Chr6, 17.5 cM, cytoband B1
• Alliance: Atp6v0a4^tm1.1Fekf page

Small size and hydronephrotic kidney in Atp6v0a4^tm1.1Fekf/Atp6v0a4^tm1.1Fekf mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:188593
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

Allele Type: Targeted (Null/knockout, Reporter) Mutations: Insertion, Intragenic deletion Mutation details: Exons 2 - 4 were replaced with a nuclear localizing signal betagal coding sequence and a floxed pgk-neo cassette via homologous recombination. Cre mediated recombination removed the pgk-neo cassette. Western blot analysis of total kidney lysates from homozygous mice confirmed the absence of protein expression. LacZ expression is detected in the metanephros, ear, and nasal epithelium at E12.5 and in the developing bone at E13.5. (J:188593)

Generation of the Atp6v0a4^tm1.1Fekf allele

Disease models

Expression

In Mice Carrying this Mutation:	87 assay results
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: 0 strains available Cell Lines: 0 lines available
• Carrying any Atp6v0a4 Mutation: 31 strains or lines available

References

• Original: J:188593 Norgett EE, et al., Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype. Proc Natl Acad Sci U S A. 2012 Aug 21;109(34):13775-80
• All: 3 reference(s)