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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cdh23sals
salsa
MGI:3708379
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cdh23sals/Cdh23sals involves: C57BL/6J MGI:3709038
ht2
Cdh23sals/Cdh23v-2J involves: C57BL/6J MGI:3842690


Genotype
MGI:3709038
hm1
Allelic
Composition
Cdh23sals/Cdh23sals
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23sals mutation (0 available); any Cdh23 mutation (134 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• vestibular hair cells maintain tip links and no abnormal degeneration of the vestibule is detected
• while tenting is present throughout the cochlear duct at P5, by P21 tenting is absent from hair cells the basal turn and by P60 tenting is absent from all hair cells indicating loss of tip links
• cells die by apoptosis
• current displacement assays indicate mild impairment of hair cell function at P7 - P8
• auditory threshold of more than 90 dB, indicating that lines are severely hearing impaired in 8- to 12 week old animals (J:119820)
• thresholds at 2 weeks and 3 months of age are 78+/-15 dB and 100+/-5 dB, respectively compared to 20+/-5 dB in controls (J:147149)
• hearing impaired across all frequencies
• progressive hearing loss

behavior/neurological
N
• despite hearing loss, movement and swimming ability are normal indicating that the vestibular system is unaffected
• low auditory startle response

nervous system
• while tenting is present throughout the cochlear duct at P5, by P21 tenting is absent from hair cells the basal turn and by P60 tenting is absent from all hair cells indicating loss of tip links
• cells die by apoptosis
• current displacement assays indicate mild impairment of hair cell function at P7 - P8
• seen by P90
• cells die by apoptosis

Mouse Models of Human Disease
OMIM ID Ref(s)
Deafness, Autosomal Recessive 12; DFNB12 601386 J:147149




Genotype
MGI:3842690
ht2
Allelic
Composition
Cdh23sals/Cdh23v-2J
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23sals mutation (0 available); any Cdh23 mutation (134 available)
Cdh23v-2J mutation (1 available); any Cdh23 mutation (134 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory