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| Nomenclature |
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Symbol:
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Cldn14tm1Tbf
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Name:
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claudin 14;
targeted mutation 1, Thomas B Friedman
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MGI ID: |
MGI:2674077 |
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Synonyms: |
Cldn14- |
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Gene:
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Cldn14
Location:
Chr16:93919032-94008837 bp, - strand
Genetic Position: Chr16,
54.99 cM, cytoband C3-4
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:85071
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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: A 3' portion of exon 3 was replaced with lacZ and neo, both simaltaneously inserted via homologous recombination of a targeting vector. The expression pattern of lacZ recapitulated that of the endogenous gene. Transcript was undetected by RT-PCR analysis of mRNA obtained from homozygous mutant kidneys. Immunostaining showed an absence of protein in sensory hair cells of homozygous mutant mice. (J:85071)
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Inheritance: | |
Recessive |
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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 Cldn14 Mutation:
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64 strains or lines available |
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| References |
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Original: |
J:85071
Ben-Yosef T et al.,
"Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration."
Hum Mol Genet 2003 Aug 15;12(16):2049-61
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All: |
1 reference(s)
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Analysis Tools
