mortality/aging
• only 6% of homozygotes were viable at birth; homozygous deaths equate with 68% lethality at P0
• however, homozygotes were present at normal Mendelian ratios at E16.5
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growth/size/body
• at P0, homozygotes were significantly smaller than wild-type and heterozygous littermates
• however, suckling was normal
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• body weight of viable homozygotes was significantly decreased at P0
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kidney cyst
(
J:261567
)
• at 1 month of age, 4 of 5 (80%) of adult homozygotes exhibited dilated and cystic kidney
• the lumen of the cyst was positive for keratin (a marker of the urothelium), indicating that it was derived from the renal pelvis
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• at 1 month of age, 4 of 5 (80%) of adult homozygotes exhibited enlarged kidney with cysts
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renal/urinary system
kidney cyst
(
J:261567
)
• at 1 month of age, 4 of 5 (80%) of adult homozygotes exhibited dilated and cystic kidney
• the lumen of the cyst was positive for keratin (a marker of the urothelium), indicating that it was derived from the renal pelvis
|
• at 1 month of age, 4 of 5 (80%) of adult homozygotes exhibited enlarged kidney with cysts
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• at P0, viable homozygotes exhibited hydronephrosis
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• at P0, two ureters were derived from a single kidney: one was dilated while the other was almost normal in diameter
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• at P0, 3 of 6 (50%) of viable homozygotes exhibited duplex ureter
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hydroureter
(
J:261567
)
• at P0, both female and male viable homozygotes exhibited hydroureter
|
respiratory system
atelectasis
(
J:261567
)
• at P0, dead homozygotes showed no or insufficient expansion of the lung
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• at P0, one of 3 dead homozygotes showed no aeration of the trachea, indicating failure to start breathing
• other mice with aeration of the trachea died after successful commencement of breathing
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