Cldn14^tm1Tbf
Targeted Allele Detail

Summary

• Symbol: Cldn14^tm1Tbf
• Name: claudin 14; targeted mutation 1, Thomas B Friedman
• MGI ID: MGI:2674077
• Synonyms: Cldn14^-
• Gene: Cldn14 Location: Chr16:93715919-93809696 bp, - strand Genetic Position: Chr16, 54.99 cM, cytoband C3-4
• Alliance: Cldn14^tm1Tbf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:85071
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• 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)
• Inheritance: Recessive

Disease models

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 Cldn14 Mutation: 72 strains or lines available

References

• 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
• All: 7 reference(s)