Phenotypes Associated with This Genotype

Genotype
MGI:5471480

• Allelic Composition: Muc2^eey/Muc2^eey
• Genetic Background: C57BL/6-Muc2^eey

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

Endoplasmic reticulum stress in the intestinal epithelium of Muc2^wnn/Muc2^wnn and Muc2^eey/Muc2^eey mice

mortality/aging

premature death ( J:194148 )

• at 1 year, some mice die or are euthanized due to rectal prolapse or debility

digestive/alimentary system

abnormal intestinal goblet cell morphology ( J:194148 )

• fewer goblet cells in the small and large intestines due to increased apoptosis

increased enterocyte apoptosis ( J:194148 )

• in distal large intestine

abnormal enterocyte proliferation ( J:194148 )

• increased in distal large intestine

melena ( J:194148 )

• in DSS-treated mice

abnormal large intestine crypts of Lieberkuhn morphology ( J:194148 )

• increased crypt length in the cecum and distal large intestine with increased intestinal proliferation and apoptosis

abnormal colon morphology ( J:194148 )

• progressive increase in proximal and distal colon thickness and weight from 6 to 18 weeks

• however, colon length is not shortened

rectal prolapse ( J:194148 )

• in some mice

increased susceptibility to induced colitis ( J:194148 )

• in DSS-treated mice with early fecal occult blood

ileum inflammation ( J:194148 )

• in DSS-treated mice

immune system

increased susceptibility to induced colitis ( J:194148 )

• in DSS-treated mice with early fecal occult blood

ileum inflammation ( J:194148 )

• in DSS-treated mice

increased leukocyte cell number ( J:194148 )

• 5-fold increase in leukocytes in the mesenteric lymph node leukocytes in untreated mice

increased interferon-gamma secretion ( J:194148 )

• from distal colon explants

increased interleukin-1 beta secretion ( J:194148 )

• from distal colon explants

increased tumor necrosis factor secretion ( J:194148 )

• from distal colon explants

• from mesenteric lymph nodes stimulated with PMA and ionomycin

cellular

abnormal intestinal goblet cell morphology ( J:194148 )

• fewer goblet cells in the small and large intestines due to increased apoptosis

abnormal endoplasmic reticulum morphology ( J:194148 )

• distended cells with membranous vacuolar material in the large intestine

• goblet cells possess dilated rough endoplasmic reticulum

abnormal mitochondrial crista morphology ( J:194148 )

• swollen mitochondria with disrupted cristae in the large intestine

dilated mitochondrion ( J:194148 )

• swollen mitochondria with disrupted cristae in the large intestine

increased enterocyte apoptosis ( J:194148 )

• in distal large intestine

abnormal enterocyte proliferation ( J:194148 )

• increased in distal large intestine

increased endoplasmic reticulum stress ( J:194148 )

• aberrant mucin assembly triggers an endoplasmic reticulum stress response and unfolded protein response activation

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:194148 )

• increased crypt length in the cecum and distal large intestine with increased intestinal proliferation and apoptosis

hematopoietic system

increased leukocyte cell number ( J:194148 )

• 5-fold increase in leukocytes in the mesenteric lymph node leukocytes in untreated mice

neoplasm

neoplasm ( J:194148 )

N • unlike Muc2^tm1Avel, mice do not develop spontaneous intestinal tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
inflammatory bowel disease		DOID:0050589	OMIM:PS266600	J:194148