Phenotypes associated with this allele

• Allele Symbol: Muc2^wnn
• Allele Name: winnie
• Allele ID: MGI:3614806
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Muc2^wnn/Muc2^wnn	C57BL/6-Muc2^wnn	MGI:3615592
ht2	Muc2^wnn/Muc2^+	C57BL/6-Muc2^wnn	MGI:5471478
ht3	Muc2^eey/Muc2^wnn	C57BL/6-Muc2^eey/Muc2^wnn	MGI:5471479

Genotype
MGI:3615592

hm1

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

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

Fewer goblet cells in the intestines of Muc2^wnn/Muc2^wnn mice and reduction in secreted mucus

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:194148 )

• lethal ulcerating colitis in DSS-treated mice

premature death ( J:194148 )

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

digestive/alimentary system

melena ( J:194148 )

• in DSS-treated mice

abnormal intestinal mucosa morphology ( J:194148 )

• reduced mucus secretion

abnormal intestinal goblet cell morphology ( J:104190 , J:194148 )

• homozygous mutant mice develop goblet cell hyperplasia (J:104190)

• fewer goblet cells in the small and large intestines due to increased apoptosis with smaller thecae (J:194148)

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

intestinal ulcer ( J:194148 )

• lethal ulcerating colitis in DSS-treated mice

abnormal colon morphology ( J:194148 )

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

decreased colon length ( J:194148 )

• decreased colon length in DSS-treated mice

• however, colon length is not shortened in untreated mice

rectal prolapse ( J:104190 , J:194148 )

• some homozygous mice develop rectal prolapse (J:104190)

• in some mice (J:194148)

abnormal digestive system physiology ( J:194148 )

• 2.5-fold increase in the proportion of fecal bacteria coated in immunoglobulin

diarrhea ( J:104190 )

• homozygous mice have soft feces at weaning and later develop diarrhea

abnormal intestinal absorption ( J:104190 )

• mutant mice exhibit malabsorption syndrome

abnormal intestine physiology ( J:194148 )

• increased intestinal permeability

increased enterocyte apoptosis ( J:194148 )

• in distal large intestine

abnormal enterocyte proliferation ( J:194148 )

• increased in distal large intestine

colitis ( J:194148 )

• mild colitis at 6, 12 and 18 weeks with crypt elongation, neutrophilic infiltrates, goblet cell loss, crypt abscesses, and focal epithelial erosions

increased susceptibility to induced colitis ( J:194148 )

• in DSS-treated mice with rapid weight loss and lethal ulcerating colitis

ileum inflammation ( J:194148 )

• in DSS-treated mice

immune system

colitis ( J:194148 )

• mild colitis at 6, 12 and 18 weeks with crypt elongation, neutrophilic infiltrates, goblet cell loss, crypt abscesses, and focal epithelial erosions

increased susceptibility to induced colitis ( J:194148 )

• in DSS-treated mice with rapid weight loss and lethal ulcerating colitis

ileum inflammation ( J:194148 )

• in DSS-treated mice

increased leukocyte cell number ( J:194148 )

• in DSS-treated mice

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

increased lymphocyte cell number ( J:194148 )

• in DSS-treated mice

increased interferon-gamma secretion ( J:194148 )

• from mesenteric lymph node leukocytes stimulated with PMA and ionomycin

increased interleukin-1 beta secretion ( J:194148 )

• from distal colon explants

increased interleukin-13 secretion ( J:194148 )

• from mesenteric lymph node leukocytes stimulated with PMA and ionomycin

increased tumor necrosis factor secretion ( J:194148 )

• from distal colon explants

• from mesenteric lymph node leukocytes stimulated with PMA and ionomycin

growth/size/body

increased susceptibility to weight loss ( J:194148 )

• in DSS-treated mice

cellular

abnormal intestinal goblet cell morphology ( J:104190 , J:194148 )

• homozygous mutant mice develop goblet cell hyperplasia (J:104190)

• fewer goblet cells in the small and large intestines due to increased apoptosis with smaller thecae (J:194148)

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

homeostasis/metabolism

increased circulating triglyceride level ( J:194148 )

• in DSS-treated mice

increased susceptibility to xenobiotic induced morbidity/mortality ( J:194148 )

• lethal ulcerating colitis in DSS-treated mice

hematopoietic system

decreased hematocrit ( J:194148 )

• in DSS-treated mice

increased leukocyte cell number ( J:194148 )

• in DSS-treated mice

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

increased lymphocyte cell number ( J:194148 )

• in DSS-treated 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

Genotype
MGI:5471478

ht2

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

Abnormal vacuolization of goblet cells in Muc2^wnn/Muc2⁺ intestine

digestive/alimentary system

rectal hemorrhage ( J:194148 )

• in DSS-treated mice

abnormal intestinal goblet cell morphology ( J:194148 )

• heterozygotes show variable but extensive vacuolization in goblet cells deep in the crypts of the proximal colon while surface goblet cells in the proximal colon and the distal colon and small intestine are mostly free of vacuolization

increased susceptibility to induced colitis ( J:194148 )

• in DSS-treated mice

immune system

increased susceptibility to induced colitis ( J:194148 )

• in DSS-treated mice

cardiovascular system

rectal hemorrhage ( J:194148 )

• in DSS-treated mice

hematopoietic system

decreased hematocrit ( J:194148 )

• in DSS-treated mice

cellular

abnormal intestinal goblet cell morphology ( J:194148 )

• heterozygotes show variable but extensive vacuolization in goblet cells deep in the crypts of the proximal colon while surface goblet cells in the proximal colon and the distal colon and small intestine are mostly free of vacuolization

Genotype
MGI:5471479

ht3

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

digestive/alimentary system

abnormal intestine morphology ( J:194148 )

• intestinal phenotypes observed in Muc2^wnn homozygotes are not complimented