Mouse Genome Informatics
hm
    Tlx2tm1Htno/Tlx2tm1Htno
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 50% die by 3-5 weeks of age, while the rest survive for more than a year
• 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
• a narrow segment spans from the proximal colon to the distal rectum in all cases of megacolon
• thickness of the smooth muscle layer of the narrow segment of the colon is decreased
• 50% of homozygotes exhibit megacolon
• small intestine is dilated

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

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Neuronal Intestinal Dysplasia, Type B 601223 J:42356