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Phenotypes Associated with This Genotype
Genotype
MGI:5575514
Allelic
Composition
Tg(CAG-Diap3)924Lesp/0
Genetic
Background
FVB/NJ-Tg(CAG-Diap3)924Lesp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-Diap3)924Lesp mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

The stereocilia of Tg(CAG-Diaph3)771Lesp/0 and Tg(CAG-Diap3)924Lesp/0 mice become progressively abnormal from 4 to 24 weeks of age

mortality/aging

hearing/vestibular/ear
• at 8 weeks of age, many stereocilia appear to collapse against their nearest neighbors, by 16 weeks, stereocilia are elongated and adhere to their neighbors, and at 24 weeks, stereocilia elongate even further and there are fewer stereocilia per inner hair cell
• stereocilia are thicker at the base than in the middle or tips
• the few remaining inner hair cell stereocilia are arranged in a single row rather than 3 rows
• outer hair cell stereocilia show loss of structural integrity, particularly those in the outermost row
• number of stereocilia per inner hair cell is reduced to approximately 5 compared to several dozen in wild-type mice at 24 weeks of age, with apparent fusion of the membrane surrounding them
• inner hair cell ribbon loss is first seen at 8 weeks, preceding the onset of hearing loss, with a 22% reduction at 24 weeks of age
• mice exhibit higher thresholds indicating that higher sound pressure levels are required to elicit a brainstem response
• mice do not show hearing loss at 4 and 8 weeks at 12 and 24 kHz, but at 16 and 24 weeks, threshold differences of 35 and 50 dB are seen, indicating severe hearing loss

cardiovascular system

nervous system
• at 8 weeks of age, many stereocilia appear to collapse against their nearest neighbors, by 16 weeks, stereocilia are elongated and adhere to their neighbors, and at 24 weeks, stereocilia elongate even further and there are fewer stereocilia per inner hair cell
• stereocilia are thicker at the base than in the middle or tips
• the few remaining inner hair cell stereocilia are arranged in a single row rather than 3 rows
• outer hair cell stereocilia show loss of structural integrity, particularly those in the outermost row
• number of stereocilia per inner hair cell is reduced to approximately 5 compared to several dozen in wild-type mice at 24 weeks of age, with apparent fusion of the membrane surrounding them
• inner hair cell ribbon loss is first seen at 8 weeks, preceding the onset of hearing loss, with a 22% reduction at 24 weeks of age

behavior/neurological
N
• mice do not show circling behavior

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant auditory neuropathy 1 DOID:0060690 OMIM:609129
J:193237


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
01/14/2020
MGI 6.14
The Jackson Laboratory