Phenotypes associated with this allele

• Allele Symbol: Ush1c^tm1Xzl
• Allele Name: targeted mutation 1, Xue Liu
• Allele ID: MGI:4437562
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ush1c^tm1Xzl/Ush1c^tm1Xzl	B6.129-Ush1c^tm1Xzl	MGI:4437610
hm2	Ush1c^tm1Xzl/Ush1c^tm1Xzl	involves: 129S1/Sv * 129X1/SvJ	MGI:5751490
ht3	Ush1c^tm1Xzl/Ush1c^+	B6.129-Ush1c^tm1Xzl	MGI:5425625

Genotype
MGI:4437610

hm1

• Allelic Composition: Ush1c^tm1Xzl/Ush1c^tm1Xzl
• Genetic Background: B6.129-Ush1c^tm1Xzl

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

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:158047 )

• scanning electron microscopy at birth shows minor cell polarity changes of outer hair cells and progressively disorganized outer hair cell stereocilia as mice progress to 120 days of age, and stereocilia of the inner hair cells also show disorganization but to a lesser degree than those of the outer hair cells

abnormal orientation of inner hair cell stereociliary bundles ( J:158047 )

abnormal cochlear outer hair cell morphology ( J:158047 )

abnormal outer hair cell stereociliary bundle morphology ( J:158047 )

abnormal orientation of outer hair cell stereociliary bundles ( J:158047 )

increased or absent threshold for auditory brainstem response ( J:158047 )

• no detectable auditory-evoked brainstem response is found with 100 dB SPL in homozygotes tested at 15, 22, or 100 days of age with click or tone-burst stimuli of 8, 16, or 32 kHz

deafness ( J:158047 )

nervous system

abnormal cochlear hair cell morphology ( J:158047 )

• scanning electron microscopy at birth shows minor cell polarity changes of outer hair cells and progressively disorganized outer hair cell stereocilia as mice progress to 120 days of age, and stereocilia of the inner hair cells also show disorganization but to a lesser degree than those of the outer hair cells

abnormal orientation of inner hair cell stereociliary bundles ( J:158047 )

abnormal cochlear outer hair cell morphology ( J:158047 )

abnormal outer hair cell stereociliary bundle morphology ( J:158047 )

abnormal orientation of outer hair cell stereociliary bundles ( J:158047 )

behavior/neurological

impaired swimming ( J:158047 )

• of 5 adult homozygotes assessed none was able to keep its nose above the surface of the water while swimming

head tossing ( J:158047 )

hyperactivity ( J:158047 )

circling ( J:158047 )

vision/eye

vision/eye phenotype ( J:158047 )

N • normal fundus with thin retinal vessels at 1, 3, and 12 months of age, and histologically normal eyes at 12 months of age

abnormal electroretinogram waveform feature ( J:158047 )

• a decline in electroretinogram for both rods and cones is found at 11 months of age

Genotype
MGI:5751490

hm2

• Allelic Composition: Ush1c^tm1Xzl/Ush1c^tm1Xzl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

digestive/alimentary system

abnormal intestinal epithelium morphology ( J:212327 )

• gross perturbations to epithelial cell morphology in both the small intestine and proximal colon

• about 10% of enterocytes and about 40% of colonocytes exhibit a disruption in brush border morphology and about 35% of colonocytes appear to lack brush borders entirely

• intermicrovillar links are still present in brush borders with defects, although they are disorganized and no longer localized to the tips of microvilli

• mice lack the microvillar distal tip enrichment of Cdhr5 (MLPCDH) and Myo7b and exhibit a signal that is more broadly distributed along the microvillar axis

abnormal enterocyte morphology ( J:212327 )

• enterocytes exhibit defects in apical morphology; microvilli are short and irregular in shape and lack the tight packaging that is characteristic of the brush border

abnormal colon morphology ( J:212327 )

• colonocytes exhibit defects in apical morphology; microvilli are short and irregular in shape and lack the tight packaging that is characteristic of the brush border

• reduction in cell proliferation in the colon

abnormal small intestine morphology ( J:212327 )

• in the small intestine, brush border defects are seen along the full length of the villus and even impact cells that are newly emerged from the crypt

decreased small intestinal microvillus size ( J:212327 )

• microvilli are short and irregular in shape

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1C		DOID:0110830	OMIM:276904	J:212327

Genotype
MGI:5425625

ht3

• Allelic Composition: Ush1c^tm1Xzl/Ush1c⁺
• Genetic Background: B6.129-Ush1c^tm1Xzl

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• for some frequencies in mice at 8-10 months of age