Phenotypes Associated with This Genotype

Genotype
MGI:5432139

• Allelic Composition: Clrn1^tm2.1Kuna/Clrn1^tm2.1Kuna
• Genetic Background: involves: 129 * BALB/cJ * C57BL/6J

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

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:186316 )

• disrupted integrity that is not as profound at P18 or P21 as in Clrn1^tm1.1Kuna homozygotes

• however, tip links are normal

increased or absent threshold for auditory brainstem response ( J:186316 )

• not as profound at P18 or P21 as in Clrn1^tm1.1Kuna homozygotes

deafness ( J:186316 )

• early onset hearing loss that progresses to deafness by weaning

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:186316 )

• disrupted integrity that is not as profound at P18 or P21 as in Clrn1^tm1.1Kuna homozygotes

• however, tip links are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 3A		DOID:0110841	OMIM:276902	J:186316