Phenotypes Associated with This Genotype

Genotype
MGI:5693947

• Allelic Composition: Abcb1a^tm1Bor/Abcb1a^tm1Bor
• Genetic Background: FVB.129P2-Abcb1a^tm1Bor/TacImx

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

digestive/alimentary system

abnormal intestinal epithelium morphology ( J:51190 )

• dysregulated epithelial cell growth in areas of inflammation

abnormal intestinal mucosa morphology ( J:51190 )

• intestinal inflammation is characterized by massive thickening of the mucosa and inflammatory cell infiltrates into the lamina propria

abnormal large intestine crypts of Lieberkuhn morphology ( J:51190 )

• crypt length is increased in mice with colitis, with about 3-5 fold more epithelial cells per crypt

crypts of Lieberkuhn abscesses ( J:51190 )

• occasional crypt abscesses extending through the mucosa to the muscular layer are seen in mice with colitis

intestinal ulcer ( J:51190 )

• occasional ulcerations extending through the mucosa to the muscular layer are seen in mice with colitis

mucous diarrhea ( J:51190 )

• about 20-25% of mice develop loose stools and anal mucous discharge by 1 year of age

large intestinal inflammation ( J:51190 )

• active intestinal inflammation that is primarily restricted to the large intestine

• inflammation spreads along the entire length of the colon

• increase in number of infiltrating CD3+ T cells scattered diffusely throughout the lamina propria; majority of infiltrating T cells are CD4+TCRalphabeta+

• presence of numerous B220+ B cell clusters/follicles within the lamina propria

• Gr1+ cellular infiltrates are prominent throughout the lamina propria of the large intestine

colitis ( J:51190 )

• severe inflammation of the large intestine resembles human inflammatory bowel disease, ulcerative colitis

• mice develop spontaneous colitis with an average age of onset at 20 weeks, although the first signs of colitis can be seen between 8 and 36 weeks of age

• prophylactic treatment with oral antibiotics prevents spontaneous colitis

• mice with active colitis treated with antibiotics show reversal of active inflammation within 3 weeks of continuous treatment

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:51190 )

• crypt length is increased in mice with colitis, with about 3-5 fold more epithelial cells per crypt

crypts of Lieberkuhn abscesses ( J:51190 )

• occasional crypt abscesses extending through the mucosa to the muscular layer are seen in mice with colitis

growth/size/body

cachexia ( J:51190 )

• some mice with colitis develop a wasting-type disease

• however, majority of mice with colitis are maintained for up to 3 months without signs of cachexia

hematopoietic system

abnormal lymphocyte physiology ( J:51190 )

• lymphocytes from colitic mice have enhanced proliferative reactivity to bacterial Ags

increased immunoglobulin level ( J:51190 )

• mice with active colitis show increased serum antibody titers

increased IgA level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgE level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG1 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2a level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2b level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG3 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgM level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

immune system

large intestinal inflammation ( J:51190 )

• active intestinal inflammation that is primarily restricted to the large intestine

• inflammation spreads along the entire length of the colon

• increase in number of infiltrating CD3+ T cells scattered diffusely throughout the lamina propria; majority of infiltrating T cells are CD4+TCRalphabeta+

• presence of numerous B220+ B cell clusters/follicles within the lamina propria

• Gr1+ cellular infiltrates are prominent throughout the lamina propria of the large intestine

colitis ( J:51190 )

• mice develop spontaneous colitis with an average age of onset at 20 weeks, although the first signs of colitis can be seen between 8 and 36 weeks of age

• severe inflammation of the large intestine resembles human inflammatory bowel disease, ulcerative colitis

• prophylactic treatment with oral antibiotics prevents spontaneous colitis

• mice with active colitis treated with antibiotics show reversal of active inflammation within 3 weeks of continuous treatment

abnormal lymphocyte physiology ( J:51190 )

• lymphocytes from colitic mice have enhanced proliferative reactivity to bacterial Ags

increased immunoglobulin level ( J:51190 )

• mice with active colitis show increased serum antibody titers

increased IgA level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgE level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG1 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2a level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2b level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG3 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgM level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
inflammatory bowel disease 13		DOID:0110893	OMIM:612244	J:51190