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Phenotypes Associated with This Genotype
Genotype
MGI:3521730
Allelic
Composition
Pkd1tm1Djmp/Pkd1tm1Djmp
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Djmp mutation (0 available); any Pkd1 mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygotes die within 1-2 months after birth

cardiovascular system
• dissecting aneurysms were seen in the abdominal and thoracic aorta accompanied by large intramural bleedings in 6 out of 6 mutants
• dissecting aneurysms were seen in the abdominal and thoracic aorta accompanied by large intramural bleedings in 6 out of 6 mutants

endocrine/exocrine glands
• small cysts were seen in 4 out of 10 homozygous mutants
• bile duct dilations were observed in 4/10 animals
• dilation of ducts and an occasional cyst were seen in 8 out of 10 mutants

growth/size/body
• small cysts were seen in 4 out of 10 homozygous mutants
• dilation of ducts and an occasional cyst were seen in 8 out of 10 mutants
• mutants weigh 40% less than wild-type littermates at weaning
• about 75% of homozygotes show a severe phenotype with pale, massively enlarged cystic kidneys at 1 month of age, the other 25% had a less severe phenotye with less enlargement of the kidneys and survived to become fertile adults
• cysts arise mainly from the loops of Henle, distal tubules, and collecting duct

immune system
• small areas of mild inflammation are seen in cystic kidneys

liver/biliary system
• small cysts were seen in 4 out of 10 homozygous mutants
• bile duct dilations were observed in 4/10 animals

renal/urinary system
• about 75% of homozygotes show a severe phenotype with pale, massively enlarged cystic kidneys at 1 month of age, the other 25% had a less severe phenotye with less enlargement of the kidneys and survived to become fertile adults
• cysts arise mainly from the loops of Henle, distal tubules, and collecting duct
• small areas of mild inflammation are seen in cystic kidneys
• small areas of mild fibrosis are seen in cystic kidneys

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
J:94582


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
03/12/2024
MGI 6.23
The Jackson Laboratory