Phenotypes Associated with This Genotype

Genotype
MGI:5474983

• Allelic Composition: Pikfyve^tm2.1Tssk/Pikfyve^tm2.1Tssk; Tg(Vil1-cre)20Syr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

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

mortality/aging

lethality, incomplete penetrance ( J:193689 )

• only 20% of mice born alive survive beyond 100 days

premature death ( J:193689 )

• only 20% of mice born alive survive beyond 100 days

prenatal lethality, incomplete penetrance ( J:193689 )

• recovered at a lower than expected Mendelian frequency

digestive/alimentary system

abnormal enterocyte morphology ( J:193689 )

• enterocytes expressing cre have enlarged endosomes

• marked vacuolation of enterocytes in the ileum

• decrease in actin at the apical surface and ectopic localization of DPP4 and IAP

abnormal small intestinal microvillus morphology ( J:193689 )

• sparse in number

decreased small intestinal microvillus size ( J:193689 )

• short

intestinal fibrosis ( J:193689 )

• overt fibrosis of the muscularis mucosa

diarrhea ( J:193689 )

melena ( J:193689 )

intestinal inflammation ( J:193689 )

• lymphocyte infiltration is prominent in both the mucosa and submucosa

homeostasis/metabolism

decreased circulating free fatty acids level ( J:193689 )

abnormal circulating enzyme level ( J:193689 )

• decrease in circulating choline esterase levels

decreased circulating serum albumin level ( J:193689 )

decreased circulating total protein level ( J:193689 )

growth/size/body

decreased body weight ( J:193689 )

• at 5 weeks of age, average weight is about 60% of the mean littermate control body weight

behavior/neurological

lethargy ( J:193689 )

hunched posture ( J:193689 )

integument

disheveled coat ( J:193689 )

immune system

intestinal inflammation ( J:193689 )

• lymphocyte infiltration is prominent in both the mucosa and submucosa

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Crohn's disease		DOID:8778		J:193689