Phenotypes Associated with This Genotype

Genotype
MGI:5751490

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

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

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