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Phenotypes Associated with This Genotype
Genotype
MGI:5142310
Allelic
Composition
Kif3atm1Gsn/Kif3atm2Gsn
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif3atm1Gsn mutation (1 available); any Kif3a mutation (5 available)
Kif3atm2Gsn mutation (1 available); any Kif3a mutation (5 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Polycystic kideny disease in Kif3atm1Gsn/Kif3atm2Gsn Tg(Cdh16-cre)91Igr/0 mutant mice

behavior/neurological
• mice exhibit lethargy by P35

growth/size/body
• mice display growth retardation by P35

renal/urinary system
• 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
• cyst epithelial cells display increased apoptosis
• advanced kidney cysts are surrounded by areas of interstitial fibrosis
• at P28, mutant kidneys are grossly enlarged
• advanced kidney cysts are surrounded by atrophic tubules
• 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
• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla
• by P35, the renal parenchyma is entirely replaced with multiple, large fluid-filled cysts
• mice exhibit renal failure by P21

homeostasis/metabolism
• mice exhibit a rapid increase in BUN levels after P14

cellular
• 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
• cyst epithelial cells display increased apoptosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
J:83293


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory