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Phenotypes Associated with This Genotype
Genotype
MGI:5476837
Allelic
Composition
Pkd1tm1Shh/Pkd1tm1.1Pcha
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1.1Pcha mutation (0 available); any Pkd1 mutation (99 available)
Pkd1tm1Shh mutation (0 available); any Pkd1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pkd1tm1.1Pcha/Pkd1tm1Shh mice show early-onset and rapidly progressive cystic disease

muscle
• in the left ventricle

mortality/aging
• beginning at P20
• median survival at P28
• most mice die by P50

renal/urinary system
• elongated collecting duct primary cilia at P25 and 12 months
• at P1
• at P1, increasing with time
• as early as E15.5, progressively worsening over time
• at P1, cysts arise primarily from the proximal tubule
• at P25, cysts arise primarily from the collecting duct
• increases over time
• associated with death

skeleton
• at male and female mice at P25
• at male and female mice at P25

cardiovascular system
• in the left ventricle

cellular
• elongated collecting duct primary cilia at P25 and 12 months
• in kidney cysts and non-dilated tubules

homeostasis/metabolism
• at P12

endocrine/exocrine glands

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
J:193544


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
08/13/2019
MGI 6.14
The Jackson Laboratory