Phenotypes Associated with This Genotype

Genotype
MGI:5902495

• Allelic Composition: B3gnt6^tm1Lx/B3gnt6^tm1Lx; C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc; Tg(Vil1-cre)997Gum/0
• Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

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

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:239765 )

• duodenal mucosa is slightly thicker at 5 months of age

abnormal small intestine morphology ( J:239765 )

• moderate thickening in different regions of the small intestinal tract is seen in a subset of mutants that are 12-20 months of age

• thickening of the small intestine is most pronounced in the proximal duodenum

abnormal duodenum morphology ( J:239765 )

• loss of acidic glycans, such as sialic acid and sulfated mucin, and presence of neutral structures, such as Tn antigen in duodenal mucosa

• little secreted mucus is seen in luminal regions or between villi of 5 month old mice

• duodenal mucosa is slightly thicker and the villi wider at 5 months of age

• administration of broad spectrum antibiotics does not increase luminal mucus in the duodenum and does not increase villus spacing

abnormal duodenum crypts of Lieberkuhn morphology ( J:239765 )

• expansion in the proliferative zone of the duodenal crypt in 4 and 8 month old mice

duodenal lesions ( J:239765 )

• numerous lesions within the first 2 cm of the duodenum; these regions are composed of hyperplastic duodenal mucosa overlaying submucosal Brunners glands

• lesions are devoid of villous structures and contain dysplastic epithelium, suggesting adenomatous polyps

abnormal ileum morphology ( J:239765 )

• 30% of mice exhibit thickening in the terminal ileum, although no tumor development is seen in this region

abnormal small intestinal villus morphology ( J:239765 )

• villi are less spaced apart than in wild-type mice and are usually adherent to each other

• duodenal villi are wider at 5 months of age

increased duodenum glandular epithelium tumor incidence ( J:239765 )

• approximately 27% of mice develop spontaneous duodenal tumors, with an average of 4 lesions per mouse, by about 1 year of age

• tumors are epithelial cell-derived

• tumor incidence does not increase with age but aggressiveness of tumors increases over time

small intestinal inflammation ( J:239765 )

• modest spontaneous duodenal inflammation at 5 months of age, with a modest influx of polymorphonuclear cells and leukocytes into the mucosa

endocrine/exocrine glands

abnormal duodenum crypts of Lieberkuhn morphology ( J:239765 )

• expansion in the proliferative zone of the duodenal crypt in 4 and 8 month old mice

immune system

small intestinal inflammation ( J:239765 )

• modest spontaneous duodenal inflammation at 5 months of age, with a modest influx of polymorphonuclear cells and leukocytes into the mucosa

neoplasm

increased duodenum glandular epithelium tumor incidence ( J:239765 )

• approximately 27% of mice develop spontaneous duodenal tumors, with an average of 4 lesions per mouse, by about 1 year of age

• tumors are epithelial cell-derived

• tumor incidence does not increase with age but aggressiveness of tumors increases over time

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
duodenum cancer		DOID:10021		J:239765