Phenotypes Associated with This Genotype

Genotype
MGI:3817243

• Allelic Composition: Tlx2^tm1Htno/Tlx2^tm1Htno
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

decreased survivor rate ( J:42356 )

• 50% die by 3-5 weeks of age, while the rest survive for more than a year

premature death ( J:42356 )

• 50% of homozygotes become sick with distended abdomen and die by 3-5 weeks of age; the rest appear normal and survive for more than a year

digestive/alimentary system

abnormal large intestine morphology ( J:42356 )

• a narrow segment spans from the proximal colon to the distal rectum in all cases of megacolon

abnormal colon morphology ( J:42356 )

• thickness of the smooth muscle layer of the narrow segment of the colon is decreased

megacolon ( J:42356 )

• 50% of homozygotes exhibit megacolon

abnormal small intestine morphology ( J:42356 )

• small intestine is dilated

nervous system

abnormal enteric nervous system morphology ( J:42356 )

• hyperinnervation of enteric neurons in the narrow segment of the megacolon

abnormal enteric ganglia morphology ( J:42356 )

• 7 of 12 homozygotes with megacolon exhibit degeneration of the enteric ganglia in the narrow segment of the colon

abnormal innervation ( J:42356 )

• hyperinnervation of enteric neurons in the in the narrow segment of the megacolon

growth/size/body

distended abdomen ( J:42356 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intestinal pseudo-obstruction		DOID:0080072		J:42356