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Phenotypes Associated with This Genotype
Genotype
MGI:6478321
Allelic
Composition
Prss8em1Bug/Prss8em1Bug
Spint2Gt(KST272)Byg/Spint2Gt(KST272)Byg
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * FVB/NJ * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prss8em1Bug mutation (0 available); any Prss8 mutation (24 available)
Spint2Gt(KST272)Byg mutation (0 available); any Spint2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die 4 to 7 days after birth

growth/size/body
• 20% reduction in body weight at birth
• postnatal growth is severely impeded, despite mice having a milk spot indicating the ability to ingest food and mice fail to gain any weight after birth

digestive/alimentary system
• intestines of most mice are filled with dark material that contains high number of red blood cells on P4, indicating bleeding into the lumen
• reduction in the proliferation rates of intestinal epithelial cells after birth, but not at E18.5, with about 70 and 80% decrease in Ki67+ epithelial cells in both small and large intestines at P2 and P4, respectively
• however, no apoptotic cells are detected in intestinal tissues from P2 to P4
• severe defect in the development of the lower gastrointestinal tract
• intestines appear distended as early as P2, but not at E18.5
• essential loss of normal tissue architecture of both small and large intestines by P4
• reduction of and near complete absence of mucin-producing goblet cells in small and large intestines at P2 and P4, respectively
• mice show general disorganization of intestinal epithelium within crypts of the large intestine at E18.5
• P2 large intestine exhibits disorganization of surface epithelium
• small intestine shows increased dyslocalization of nuclei within the epithelial layer indicating loss of epithelial cell polarity on P2
• P2 small intestine shows a substantial number of epithelial cells containing very large vacuoles
• abnormal differentiation of intestinal epithelium
• an increase in shedding of cellular material into the lumen of the large intestine is seen at E18.5
• P2 large intestine exhibits disorganization of surface epithelium and overall loss of crypt structure
• mice show general disorganization of intestinal epithelium within crypts of the large intestine at E18.5
• P2 large intestine exhibits overall loss of crypt structure
• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5
• small intestine shows increased dyslocalization of nuclei within the epithelial layer indicating loss of epithelial cell polarity on P2
• P2 small intestine shows a substantial number of epithelial cells containing very large vacuoles
• small intestine shows signs of villous atrophy on P2 but not at E18.5
• relative length of the large intestine is reduced at P2 but not at E18.5

endocrine/exocrine glands
• mice show general disorganization of intestinal epithelium within crypts of the large intestine at E18.5
• P2 large intestine exhibits overall loss of crypt structure
• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5

cardiovascular system
• intestines of most mice are filled with dark material that contains high number of red blood cells on P4, indicating bleeding into the lumen

cellular
• reduction of and near complete absence of mucin-producing goblet cells in small and large intestines at P2 and P4, respectively
• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5
• reduction in the proliferation rates of intestinal epithelial cells after birth, but not at E18.5, with about 70 and 80% decrease in Ki67+ epithelial cells in both small and large intestines at P2 and P4, respectively
• however, no apoptotic cells are detected in intestinal tissues from P2 to P4

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital secretory sodium diarrhea 3 DOID:0060781 OMIM:270420
J:261068


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