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Targeted Allele Detail
Symbol: Atp6v0a4tm1.1Fekf
Name: ATPase, H+ transporting, lysosomal V0 subunit A4; targeted mutation 1.1, Fiona E Karet Frankl
MGI ID: MGI:5441584
Gene: Atp6v0a4  Location: Chr6:38048483-38124586 bp, - strand  Genetic Position: Chr6, 17.5 cM, cytoband B1
Small size and hydronephrotic kidney in Atp6v0a4tm1.1Fekf/Atp6v0a4tm1.1Fekf mice

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

Germline Transmission:  Earliest citation of germline transmission: J:188593
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExons 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 Atp6v0a4tm1.1Fekf allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 12 anatomical structures
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:  24 strains or lines available
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:  2 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
MGI 6.14
The Jackson Laboratory