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Phenotypes Associated with This Genotype
Genotype
MGI:5474983
Allelic
Composition
Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk
Tg(Vil1-cre)20Syr/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pikfyvetm2.1Tssk mutation (0 available); any Pikfyve mutation (116 available)
Tg(Vil1-cre)20Syr mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 20% of mice born alive survive beyond 100 days
• only 20% of mice born alive survive beyond 100 days
• recovered at a lower than expected Mendelian frequency

digestive/alimentary system
• 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
• overt fibrosis of the muscularis mucosa
• lymphocyte infiltration is prominent in both the mucosa and submucosa

homeostasis/metabolism
• decrease in circulating choline esterase levels

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

behavior/neurological

integument

immune system
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory