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Phenotypes Associated with This Genotype
Genotype
MGI:2173244
Allelic
Composition
Pkd1tm1Rsa/Pkd1+
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Rsa mutation (0 available); any Pkd1 mutation (154 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Renal cysts in embryonic and adult kidneys of Pkd1tm1Rsa/Pkd1+ mice

renal/urinary system
• microscopic cysts are seen throughout the nephron in about 50% of heterozygotes before 9 months of age and are detected as early as 3 months of age
• macroscopic cysts are occasionally seen in heterozygotes from 4 to 19 months of age
• cysts are often lined with hyperplastic or apoptotic cells

liver/biliary system
• liver cysts are occasionally seen in heterozygotes from 19 months of age

growth/size/body
• microscopic cysts are seen throughout the nephron in about 50% of heterozygotes before 9 months of age and are detected as early as 3 months of age
• macroscopic cysts are occasionally seen in heterozygotes from 4 to 19 months of age
• cysts are often lined with hyperplastic or apoptotic cells
• liver cysts are occasionally seen in heterozygotes from 19 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
J:72238


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory