mortality/aging
• 71% of homozygotes die within 5 months of birth
|
• 21% of homozygotes die within 48 hours of birth
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renal/urinary system
• neonatal kidneys are disorganized
|
kidney cyst
(
J:96485
)
• multiple epithelial cysts derived from the collecting system of the kidney
|
• the nephrogenic zone is not limited to the cortex in newborn mutants
|
fused kidneys
(
J:96485
)
• what appears as a single kidney macroscopically is actually several kidney primordia fused together
|
• 20 of 21 homozygotes examined shortly after birth display ureter abnormalities (multiple ureters or hydoureter)
• abnormal ureters end blindly in females and attach to the vas deferens in males
|
• at E14.5, the supernumerary, abnormal ureters remain attached to the Wolffian duct and fail to insert into the bladder
|
blind ureter
(
J:96485
)
• abnormal ureters end blindly in females
|
• abnormal ureters attach to the vas deferens in newborn males
|
hydroureter
(
J:96485
)
• at E11, the ureteric bud is abnormally wide
|
• in E11.5 kidney explants cultured in vitro, some kidneys display multiple ureteric stalks attached to the Wolffian duct, each of which has undergone branching morphogenesis that results in abnormally wide, and occasionally fused UB tips
|
• at E11.5, the ureteric bud formed at the normal position has abnormally wide branched tips
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• at E11.5, the ureteric bud formed at the normal position has an abnormally wide stalk
|
• at E11, supernumerary buds are seen along the Wolffian duct
• at E11.5, ectopic buds are seen anterior to the wide bud
|
growth/size/body
kidney cyst
(
J:96485
)
• multiple epithelial cysts derived from the collecting system of the kidney
|