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Phenotypes Associated with This Genotype
Genotype
MGI:3584475
Allelic
Composition
Ihhtm1Amc/Ihhtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
N
• at 18.5 dpc, homozygotes exhibit no intestinal transformation of the stomach epithelium
• at 18.5 dpc, homozygotes display a smaller gastrointestinal tract relative to wild-type
• at 18.5 dpc, all homozygotes display an obvious malrotation of the gut, in the absence of reversions in gut situs
• at 18.5 dpc, homozygotes display a significant dilation of parts of the colon as well as a thin wall
• at 18.5 dpc, 50% of homozygotes display an aganglionic megacolon
• at 18.5 dpc, homozygotes show a significant dilation of the small intestine
• at 18.5 dpc, homozygotes show a 34% reduction in thickness of the circular smooth muscle layer along the small intestine
• at this stage, the size of mutant villi is markedly reduced concomitant with a 54% decrease in epithelial stem cell proliferation between and at the base of villi
• at 18.5 dpc, homozygotes show a 45% reduction in the number of cholecystokinin-producing cells of the duodenum
• at 18.5 dpc, no duodenal stenosis is observed

growth/size/body
• at 18.5 dpc, mutant embryos have an overall reduced size relative to wild-type embryos

nervous system
• at 18.5 dpc, enteric neurons are completely absent along parts of the small intestine and in dilated portions of the colon

endocrine/exocrine glands
• at 18.5 dpc, 43% of homozygotes exhibit an annular pancreas

muscle
• at 18.5 dpc, homozygotes show a 34% reduction in thickness of the circular smooth muscle layer along the small intestine

Mouse Models of Human Disease
OMIM ID Ref(s)
Pancreas, Annular 167750 J:62158


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory