Phenotypes associated with this allele

• Allele Symbol: Clrn1^tm2.1Kuna
• Allele Name: targeted mutation 2.1, Kumar N Alagramam
• Allele ID: MGI:5432130
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clrn1^tm2.1Kuna/Clrn1^tm2.1Kuna	involves: 129 * BALB/cJ * C57BL/6J	MGI:5432139
hm2	Clrn1^tm2.1Kuna/Clrn1^tm2.1Kuna	involves: 129 * C57BL/6J	MGI:6199483
cx3	Clrn1^tm2.1Kuna/Clrn1^tm2.1Kuna Tg(Atoh1-Clrn1)#Kuna/0	involves: 129 * C57BL/6J	MGI:6199482

Genotype
MGI:5432139

hm1

• 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

Genotype
MGI:6199483

hm2

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

hearing/vestibular/ear

deafness ( J:260239 )

• mice exhibit early onset profound hearing loss at P22

Genotype
MGI:6199482

cx3

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

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