Phenotypes Associated with This Genotype

Genotype
MGI:3584475

• Allelic Composition: Ihh^tm1Amc/Ihh^tm1Amc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

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

digestive/alimentary system

digestive/alimentary phenotype ( J:62158 )

N • at 18.5 dpc, homozygotes exhibit no intestinal transformation of the stomach epithelium

abnormal digestive system morphology ( J:62158 )

• at 18.5 dpc, homozygotes display a smaller gastrointestinal tract relative to wild-type

abnormal digestive organ placement ( J:62158 )

• at 18.5 dpc, all homozygotes display an obvious malrotation of the gut, in the absence of reversions in gut situs

megacolon ( J:62158 )

• at 18.5 dpc, homozygotes display a significant dilation of parts of the colon as well as a thin wall

aganglionic megacolon ( J:62158 )

• at 18.5 dpc, 50% of homozygotes display an aganglionic megacolon

abnormal small intestine morphology ( J:62158 )

• 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

abnormal duodenum morphology ( J:62158 )

• 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

decreased fetal size ( J:62158 )

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

nervous system

absent enteric neurons ( J:62158 )

• 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

annular pancreas ( J:62158 )

• at 18.5 dpc, 43% of homozygotes exhibit an annular pancreas

muscle

abnormal smooth muscle morphology ( J:62158 )

• 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		DO ID	OMIM ID(s)	Ref(s)
annular pancreas		DOID:0060850	OMIM:167750	J:62158
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:62158