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A GLG motif was mutated to AAA in the PDZ2 domain, within exon 8, in addition an FRT flanked neo cassette was inserted in intron 6 by homologous recombination. The neo cassette was removed by flp mediated recombination. This mutation is predicted to disrupt protein interactions with CDH23. Whole mount analysis revealed mislocalization of the mutant protein (widely distributed) in cochlear stereocilia from homozygous mice. (J:157359)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
