mortality/aging
• homozygous mutants die by 27 days of age
|
digestive/alimentary system
• stenosis of the entire colon or dilation of the oral portion and stenosis of the anal portion of the colon is seen
|
• the small intestine is dilated
|
growth/size/body
kidney cyst
(
J:92802
)
• cystic changes are seen in the tubules of some homozygotes
|
• mutants are the same size as wild-type at birth but display severe growth retardation by 13.5 days of age
|
• a distended abdomen is seen by 10 days of age
|
renal/urinary system
kidney cyst
(
J:92802
)
• cystic changes are seen in the tubules of some homozygotes
|
• the ratio of kidney to body weight is about 50% that in wild-type mice
|
• the number of ureteric buds at E13,5 is significantly reduced in homozygotes compared to wild-type mice
|
nervous system
• at E13.5 and E17.5 enteric nervous system progenitors are reduced or absent in the intestines of mutants
|
• in the small intestine and colon ganglion cells are totally absent (40%) or reduced in number and size (60%) and the number of ganglion cells in the stomach is slightly reduced
• the number of neurons is not affected
|