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Phenotypes Associated with This Genotype
Genotype
MGI:5476929
Allelic
Composition
EpcamGt(RST412)Byg/EpcamGt(RST412)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
EpcamGt(RST412)Byg mutation (0 available); any Epcam mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tufting enteropathy in EpcamGt(RST412)Byg/EpcamGt(RST412)Byg mice

mortality/aging

digestive/alimentary system
• smaller at 3 days of age
• epithelial tufts increase over time in the small intestine and colon
• surface enterocyte disorganization and crowding is focally distributed along the small intestine
• necrosis is seen
• progressive villous atrophy starting at birth and resulting in essential loss of normal mucosal architecture by P4
• colon crypts show aberrant pseudo-cyst aspects and highly proliferative enterocytes
• crypts show aberrant pseudo-cyst aspects and highly proliferative enterocytes
• hemorrhagic enteritis is evident from P0

growth/size/body
• smaller than littermates by P2
• unable to gain weight

cardiovascular system
• hemorrhagic enteritis is evident from P0

endocrine/exocrine glands
• colon crypts show aberrant pseudo-cyst aspects and highly proliferative enterocytes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital diarrhea 5 with tufting enteropathy DOID:0060776 OMIM:613217
J:195002


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory