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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cdh23Jera
jera
MGI:5140884
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cdh23Jera/Cdh23Jera involves: C57BL/6 MGI:5140886
ht2
Cdh23Jera/Cdh23+ involves: C57BL/6 MGI:5140887


Genotype
MGI:5140886
hm1
Allelic
Composition
Cdh23Jera/Cdh23Jera
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23Jera mutation (0 available); any Cdh23 mutation (127 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• no signs of vestibular dysfunction
• the tunnel of Corti is less well formed at 4 weeks of age
• absence of stereociliary tip tenting of IHC second tallest row stereocilia indicating disruption of tip links
• some indication of hair cell degeneration in the basal cochlear region at 4 weeks of age
• by 8 and 12 weeks of age signs of hair cell degeneration are clearly apparent in the basal and midcochlear turns
• collapse of the organ of Corti in the basal and midcochlear turns at 8 and 12 weeks of age
• significantly increased threshold at 4 weeks of age
• profound hearing loss at 4 weeks of age

behavior/neurological
N
• no signs of vestibular dysfunction

nervous system
• absence of stereociliary tip tenting of IHC second tallest row stereocilia indicating disruption of tip links
• some indication of hair cell degeneration in the basal cochlear region at 4 weeks of age
• by 8 and 12 weeks of age signs of hair cell degeneration are clearly apparent in the basal and midcochlear turns
• loss of spiral ganglion neurons in the basal and midcochlear turns at 8 and 12 weeks of age

Mouse Models of Human Disease
OMIM ID Ref(s)
Deafness, Autosomal Recessive 12; DFNB12 601386 J:174130




Genotype
MGI:5140887
ht2
Allelic
Composition
Cdh23Jera/Cdh23+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23Jera mutation (0 available); any Cdh23 mutation (127 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• at 13 weeks of age in the basal cochlear turn, with approximately 50% of OHCs missing in this region
• increased threshold at 24 weeks of age
• later onset and milder than in homozygous mice

nervous system
• at 13 weeks of age in the basal cochlear turn, with approximately 50% of OHCs missing in this region





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory