Phenotypes Associated with This Genotype

Genotype
MGI:6199482

• Allelic Composition: Clrn1^tm2.1Kuna/Clrn1^tm2.1Kuna; Tg(Atoh1-Clrn1)#Kuna/0
• Genetic Background: involves: 129 * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:260239 )

• by P70, 2 of 10 mice show a 70-80 dB SPL threshold indicating severe hearing loss and 8 of 10 mice show a greater than 90 dB SPL threshold, indicating profound hearing loss

deafness ( J:260239 )

• mice show gradual hearing loss such that at P22, most mice have auditory brain stem response (ABR) thresholds similar to controls but by P70, 2 of 10 mice show a 70-80 dB SPL threshold indicating severe hearing loss and 8 of 10 mice show a greater than 90 dB SPL threshold, indicating profound hearing loss

• treatment with a small molecule BF844 mitigates hearing loss

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 3		DOID:0110828		J:260239