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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 (281 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:174130 )
N
• no signs of vestibular dysfunction
abnormal organ of Corti morphology ( J:174130 )
• the tunnel of Corti is less well formed at 4 weeks of age
abnormal inner hair cell stereociliary bundle morphology ( J:174130 )
• absence of stereociliary tip tenting of IHC second tallest row stereocilia indicating disruption of tip links
cochlear hair cell degeneration ( J:174130 )
• 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
organ of Corti degeneration ( J:174130 )
• collapse of the organ of Corti in the basal and midcochlear turns at 8 and 12 weeks of age
increased or absent threshold for auditory brainstem response ( J:174130 )
• significantly increased threshold at 4 weeks of age
impaired hearing ( J:174130 )
• profound hearing loss at 4 weeks of age

behavior/neurological
behavior/neurological phenotype ( J:174130 )
N
• no signs of vestibular dysfunction

nervous system
abnormal inner hair cell stereociliary bundle morphology ( J:174130 )
• absence of stereociliary tip tenting of IHC second tallest row stereocilia indicating disruption of tip links
cochlear hair cell degeneration ( J:174130 )
• 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
abnormal cochlear ganglion morphology ( J:174130 )
• loss of spiral ganglion neurons in the basal and midcochlear turns at 8 and 12 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
autosomal recessive nonsyndromic deafness 12 DOID:0110467 OMIM: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 (281 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
cochlear outer hair cell degeneration ( J:174130 )
• at 13 weeks of age in the basal cochlear turn, with approximately 50% of OHCs missing in this region
increased or absent threshold for auditory brainstem response ( J:174130 )
• increased threshold at 24 weeks of age
• later onset and milder than in homozygous mice

nervous system
cochlear outer hair cell degeneration ( J:174130 )
• 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory