Phenotypes Associated with This Genotype

Genotype
MGI:3574645

• Allelic Composition: Spry1^tm1.1Jdli/Spry1^tm1.1Jdli
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

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

mortality/aging

premature death ( J:96485 )

• 71% of homozygotes die within 5 months of birth

postnatal lethality, incomplete penetrance ( J:96485 )

• 21% of homozygotes die within 48 hours of birth

renal/urinary system

abnormal kidney morphology ( J:96485 )

• neonatal kidneys are disorganized

kidney cyst ( J:96485 )

• multiple epithelial cysts derived from the collecting system of the kidney

abnormal nephrogenic zone morphology ( J:96485 )

• 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

abnormal ureter morphology ( J:96485 )

• 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

abnormal ureter development ( J:96485 )

• 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

ectopic ureter ( J:96485 )

♂ • abnormal ureters attach to the vas deferens in newborn males

hydroureter ( J:96485 )

abnormal ureteric bud morphology ( J:96485 )

• at E11, the ureteric bud is abnormally wide

abnormal branching involved in ureteric bud morphogenesis ( J:96485 )

• 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

abnormal ureteric bud tip morphology ( J:96485 )

• at E11.5, the ureteric bud formed at the normal position has abnormally wide branched tips

abnormal ureteric bud trunk morphology ( J:96485 )

• at E11.5, the ureteric bud formed at the normal position has an abnormally wide stalk

ectopic ureteric bud ( J:96485 )

• 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