Phenotypes Associated with This Genotype

Genotype
MGI:6164129

• Allelic Composition: Vamp5^{tm1(KOMP)Vlcg}/Vamp5^{tm1(KOMP)Vlcg}
• Genetic Background: C57BL/6N-Vamp5^{tm1(KOMP)Vlcg}

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:261567 )

• 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

growth/size/body

decreased birth body size ( J:261567 )

• at P0, homozygotes were significantly smaller than wild-type and heterozygous littermates

• however, suckling was normal

decreased birth weight ( J:261567 )

• body weight of viable homozygotes was significantly decreased at P0

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

enlarged kidney ( J:261567 )

• at 1 month of age, 4 of 5 (80%) of adult homozygotes exhibited enlarged kidney with cysts

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

enlarged kidney ( J:261567 )

• at 1 month of age, 4 of 5 (80%) of adult homozygotes exhibited enlarged kidney with cysts

hydronephrosis ( J:261567 )

• at P0, viable homozygotes exhibited hydronephrosis

dilated ureter ( J:261567 )

• at P0, two ureters were derived from a single kidney: one was dilated while the other was almost normal in diameter

double ureter ( J:261567 )

• at P0, 3 of 6 (50%) of viable homozygotes exhibited duplex ureter

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

respiratory failure ( J:261567 )

• 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