Phenotypes associated with this allele

• Allele Symbol: Prss8^em1Bug
• Allele Name: endonuclease-mediated mutation 1, Thomas H Bugge
• Allele ID: MGI:6446228
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prss8^em1Bug/Prss8^em1Bug	FVB/NJ-Prss8^em1Bug	MGI:6446242
cx2	Prss8^em1Bug/Prss8^em1Bug Spint2^Gt(KST272)Byg/Spint2^Gt(KST272)Byg	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * FVB/NJ * NIH Black Swiss	MGI:6478321

Genotype
MGI:6446242

hm1

• Allelic Composition: Prss8^em1Bug/Prss8^em1Bug
• Genetic Background: FVB/NJ-Prss8^em1Bug

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

integument

integument phenotype ( J:231031 )

N • normal epidermal development

sparse hair ( J:231031 )

• sparse pelage hair owing to reduced proliferation of hair follicles

delayed emergence of vibrissae ( J:231031 )

• absent at birth

curly vibrissae ( J:231031 )

kinked vibrissae ( J:231031 )

mortality/aging

mortality/aging ( J:231031 )

N • normal pre- and postnatal survival

Genotype
MGI:6478321

cx2

• Allelic Composition: Prss8^em1Bug/Prss8^em1Bug; Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * FVB/NJ * NIH Black Swiss

mortality/aging

postnatal lethality, complete penetrance ( J:261068 )

• mice die 4 to 7 days after birth

growth/size/body

decreased birth weight ( J:261068 )

• 20% reduction in body weight at birth

postnatal growth retardation ( J:261068 )

• 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

intestinal hemorrhage ( J:261068 )

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

abnormal enterocyte proliferation ( J:261068 )

• 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

abnormal digestive system morphology ( J:261068 )

• severe defect in the development of the lower gastrointestinal tract

abnormal intestine morphology ( J:261068 )

• 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

abnormal intestine goblet cell morphology ( J:261068 )

• reduction of and near complete absence of mucin-producing goblet cells in small and large intestines at P2 and P4, respectively

abnormal intestinal epithelium morphology ( J:261068 )

• 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

abnormal large intestine morphology ( J:261068 )

• 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

abnormal large intestine crypts of Lieberkuhn morphology ( J:261068 )

• 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

decreased colon goblet cell number ( J:261068 )

• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5

abnormal small intestine morphology ( J:261068 )

• 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 intestinal villus atrophy ( J:261068 )

• small intestine shows signs of villous atrophy on P2 but not at E18.5

decreased intestine length ( J:261068 )

• relative length of the large intestine is reduced at P2 but not at E18.5

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:261068 )

• 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

decreased colon goblet cell number ( J:261068 )

• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5

cardiovascular system

intestinal hemorrhage ( J:261068 )

• 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

abnormal intestine goblet cell morphology ( J:261068 )

• reduction of and near complete absence of mucin-producing goblet cells in small and large intestines at P2 and P4, respectively

decreased colon goblet cell number ( J:261068 )

• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5

abnormal enterocyte proliferation ( J:261068 )

• 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