Phenotypes Associated with This Genotype

Genotype
MGI:5142310

• Allelic Composition: Kif3a^tm1Gsn/Kif3a^tm2Gsn; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR

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

Polycystic kideny disease in Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(Cdh16-cre)91Igr/0 mutant mice

behavior/neurological

lethargy ( J:83293 )

• mice exhibit lethargy by P35

growth/size/body

kidney cyst ( J:83293 )

• mutant kidneys contain multiple, fluid-filled cysts in both the cortex and medulla

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

• cyst epithelial cells lack primary cilia and display altered cell polarity as well as increased proliferation and apoptosis

kidney cortex cyst ( J:83293 )

kidney medulla cyst ( J:83293 )

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

polycystic kidney ( J:83293 )

• by P35, the renal parenchyma is entirely replaced with multiple, large fluid-filled cysts

postnatal growth retardation ( J:83293 )

• mice display growth retardation by P35

enlarged kidney ( J:83293 )

• at P28, mutant kidneys are grossly enlarged

renal/urinary system

absent kidney epithelial cell primary cilium ( J:83293 )

• cilia are present in neonatal collecting ducts prior to the onset of cyst formation (P5), but are lost during postnatal development

• mice lack tubulin-positive cilia on the luminal surfaces of most cyst epithelial cells derived from the loops of Henle and collecting ducts

• cilia are missing from the surface of epithelial cells lining the cysts but are present in adjacent noncystic tubules

increased kidney apoptosis ( J:83293 )

• cyst epithelial cells display increased apoptosis

kidney cyst ( J:83293 )

• mutant kidneys contain multiple, fluid-filled cysts in both the cortex and medulla

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

• cyst epithelial cells lack primary cilia and display altered cell polarity as well as increased proliferation and apoptosis

kidney cortex cyst ( J:83293 )

kidney medulla cyst ( J:83293 )

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

polycystic kidney ( J:83293 )

• by P35, the renal parenchyma is entirely replaced with multiple, large fluid-filled cysts

enlarged kidney ( J:83293 )

• at P28, mutant kidneys are grossly enlarged

renal interstitial fibrosis ( J:83293 )

• advanced kidney cysts are surrounded by areas of interstitial fibrosis

renal tubule atrophy ( J:83293 )

• advanced kidney cysts are surrounded by atrophic tubules

kidney failure ( J:83293 )

• mice exhibit renal failure by P21

homeostasis/metabolism

increased blood urea nitrogen level ( J:83293 )

• mice exhibit a rapid increase in BUN levels after P14

cellular

absent kidney epithelial cell primary cilium ( J:83293 )

• cilia are present in neonatal collecting ducts prior to the onset of cyst formation (P5), but are lost during postnatal development

• mice lack tubulin-positive cilia on the luminal surfaces of most cyst epithelial cells derived from the loops of Henle and collecting ducts

• cilia are missing from the surface of epithelial cells lining the cysts but are present in adjacent noncystic tubules

increased kidney apoptosis ( J:83293 )

• cyst epithelial cells display increased apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease		DOID:0080322	OMIM:PS173900	J:83293