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Phenotypes Associated with This Genotype
Genotype
MGI:5470236
Allelic
Composition
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi
Genetic
Background
B6.129S6-Pkd1tm1.1Fqi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1.1Fqi mutation (0 available); any Pkd1 mutation (151 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small size and postnatal development of cystic kidney in Pkd1tm1.1Fqi/Pkd1tm1.1Fqi mice

mortality/aging
• mice die between 2 and 6 weeks after birth, with about 50% dead by the third week of age
• mice die between 2 and 6 weeks after birth, with about 50% dead by the third week of age

growth/size/body
• mice become slightly smaller beginning at P9 and display markedly smaller body statures by P16 and weigh less than half the wild-type littermates after 3 weeks of age
• at P0, kidneys contain a few microcysts in the subcortical region, from P1-P5, the number and size of cysts increases, initially in the cortex and then extending into the medulla, and by P14, cysts replace most of the normal renal parenchyma except for the papillae tip, and massive cystic kidneys by P22-P28
• most cysts are of collecting duct origin, indicating that renal tubular cystic dilation involves primarily distal nephron segments
• mice exhibit distended abdomens at P16
• mice at P9 and P16 have pale, grossly enlarged cystic kidneys

homeostasis/metabolism
• mice have elevated blood urea nitrogen levels at P14 and P23

liver/biliary system
• mice at P9 and P16 exhibit dilated common bile ducts

endocrine/exocrine glands
• mice at P9 and P16 exhibit dilated common bile ducts

renal/urinary system
• at P0, kidneys contain a few microcysts in the subcortical region, from P1-P5, the number and size of cysts increases, initially in the cortex and then extending into the medulla, and by P14, cysts replace most of the normal renal parenchyma except for the papillae tip, and massive cystic kidneys by P22-P28
• most cysts are of collecting duct origin, indicating that renal tubular cystic dilation involves primarily distal nephron segments
• mice at P9 and P16 have pale, grossly enlarged cystic kidneys
• mice show rapid and progressive tubular dilation of the kidneys during the postnatal maturation stage


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
03/25/2025
MGI 6.24
The Jackson Laboratory