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Phenotypes Associated with This Genotype
Genotype
MGI:5751490
Allelic
Composition
Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ush1ctm1Xzl mutation (1 available); any Ush1c mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• 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
• 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
• 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
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory