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Phenotypes Associated with This Genotype
Genotype
MGI:5141009
Allelic
Composition
Cdh2312J/Cdh2312J
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh2312J mutation (1 available); any Cdh23 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• normal gait and swimming ability indicating absence of vestibular abnormalities
• progressive OHC loss beginning around 3 months of age and moves from the cochlear base to the apex
• loss is evident in the midcochlear turns at P100
• treatment with an apoptosis inhibitor reduces OHC loss
• expression analysis indicates enhanced apoptosis in OHC
• first detectable with high frequencies at P40
• treatment with an apoptosis inhibitor lowers ABR thresholds
• lower amplitudes at 7 weeks of age compared to mice homozygous for Cdh23ahl
• treatment with an apoptosis inhibitor increases amplitudes
• at 22 weeks of age, at all frequencies tested
• develops by P27
• by P90

nervous system
• progressive OHC loss beginning around 3 months of age and moves from the cochlear base to the apex
• loss is evident in the midcochlear turns at P100
• treatment with an apoptosis inhibitor reduces OHC loss
• expression analysis indicates enhanced apoptosis in OHC

behavior/neurological
N
• normal gait and swimming ability indicating absence of vestibular abnormalities
• at 20 weeks of age in response to a 20 kHz 90 dB sound pressure level tone burst

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive nonsyndromic deafness 12 DOID:0110467 OMIM:601386
J:174758


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
10/15/2019
MGI 6.14
The Jackson Laboratory