Phenotypes Associated with This Genotype

Genotype
MGI:5476929

• Allelic Composition: Epcam^{Gt(RST412)Byg}/Epcam^{Gt(RST412)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Tufting enteropathy in Epcam^{Gt(RST412)Byg}/Epcam^{Gt(RST412)Byg} mice

mortality/aging

postnatal lethality, complete penetrance ( J:195002 )

• all die by P4

digestive/alimentary system

abnormal intestine morphology ( J:195002 )

• smaller at 3 days of age

abnormal intestinal epithelium morphology ( J:195002 )

• epithelial tufts increase over time in the small intestine and colon

abnormal enterocyte morphology ( J:195002 )

• surface enterocyte disorganization and crowding is focally distributed along the small intestine

• necrosis is seen

abnormal intestinal mucosa morphology ( J:195002 )

• progressive villous atrophy starting at birth and resulting in essential loss of normal mucosal architecture by P4

abnormal crypts of Lieberkuhn morphology ( J:195002 )

• colon crypts show aberrant pseudo-cyst aspects and highly proliferative enterocytes

abnormal colon morphology ( J:195002 )

• crypts show aberrant pseudo-cyst aspects and highly proliferative enterocytes

abnormal intestine physiology ( J:195002 )

• hemorrhagic enteritis is evident from P0

growth/size/body

postnatal growth retardation ( J:195002 )

• smaller than littermates by P2

slow postnatal weight gain ( J:195002 )

• unable to gain weight

cardiovascular system

internal hemorrhage ( J:195002 )

• hemorrhagic enteritis is evident from P0

endocrine/exocrine glands

abnormal crypts of Lieberkuhn morphology ( J:195002 )

• 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