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| Nomenclature |
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Symbol:
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Atp6v0a4tm1.1Fekf
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Name:
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ATPase, H+ transporting, lysosomal V0 subunit A4;
targeted mutation 1.1, Fiona E Karet Frankl
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MGI ID: |
MGI:5441584 |
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Gene:
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Atp6v0a4
Location:
Chr6:38048483-38124586 bp, - strand
Genetic Position: Chr6,
17.5 cM, cytoband B1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:188593
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Parent Cell Line:
| Bruce 4 (ES Cell) |
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Strain of Origin:
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B6.Cg-Thy1a
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Atp6v0a4 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
