About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory