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Phenotypes Associated with This Genotype
Genotype
MGI:3583124
Allelic
Composition
Nphp3pcy/Nphp3pcy
Genetic
Background
either: D2.KK-Nphp3pcy or (involves: DBA/2Fg * DBA/2J * KK)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation (0 available); any Nphp3 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean age of death is 8.2+/-0.3 months and 6.5+/-0.1 months for males and females, respectively

renal/urinary system
• focal interstitial inflammatory infiltrates are seen at 18 and 30 weeks of age
• in fetal and newborn mice dilation of the collecting ducts is seen
• focal thickening of the basement membrane is seen in Bowman's capsules
• in fetal and newborn mice dilation of Bowman's capsule is seen
• at 18 and 30 weeks of age
• by 8 weeks of age
• at 18 weeks of age kidney weight is 1.95+/-0.05 g compared to 0.66+/-0.05 g in controls; however no difference in total body weight is seen
• focal thickening of the basement membrane is seen in both normal and cystic tubules
• in fetal and newborn mice dilation of the distal tubules is seen
• at 4 weeks of age well-formed cysts are seen in the outer portion of the inner medulla involving proximal and distal tubules and collecting ducts
• at 30 weeks cysts dominate the kidney and kidneys have a slightly cobblestone-like appearance; however no hepatic cysts or heart valve abnormalities are seen

homeostasis/metabolism
• blood urea nitrogen is elevated at 30 weeks but not at 8 or 18 weeks

cardiovascular system
• 2 out of 17 cystic mice display intracranial aneurysms

craniofacial
• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age
• early eruption of incisors caused malocclusion

skeleton
• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age
• early eruption of incisors caused malocclusion

immune system
• focal interstitial inflammatory infiltrates are seen at 18 and 30 weeks of age

growth/size/body
• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age
• early eruption of incisors caused malocclusion

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant polycystic kidney disease DOID:898 OMIM:PS173900
J:11399


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
03/19/2019
MGI 6.13
The Jackson Laboratory