Phenotypes Associated with This Genotype

Genotype
MGI:3521730

• Allelic Composition: Pkd1^tm1Djmp/Pkd1^tm1Djmp
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:94582 )

• most homozygotes die within 1-2 months after birth

cardiovascular system

aortic dissection ( J:94582 )

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

aortic aneurysm ( J:94582 )

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

endocrine/exocrine glands

biliary cyst ( J:94582 )

• small cysts were seen in 4 out of 10 homozygous mutants

dilated bile duct ( J:94582 )

• bile duct dilations were observed in 4/10 animals

pancreas cyst ( J:94582 )

• dilation of ducts and an occasional cyst were seen in 8 out of 10 mutants

growth/size/body

biliary cyst ( J:94582 )

• small cysts were seen in 4 out of 10 homozygous mutants

pancreas cyst ( J:94582 )

• dilation of ducts and an occasional cyst were seen in 8 out of 10 mutants

decreased body weight ( J:94582 )

• mutants weigh 40% less than wild-type littermates at weaning

kidney cyst ( J:94582 )

• 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

postnatal growth retardation ( J:94582 )

distended abdomen ( J:94582 )

immune system

kidney inflammation ( J:94582 )

• small areas of mild inflammation are seen in cystic kidneys

liver/biliary system

biliary cyst ( J:94582 )

• small cysts were seen in 4 out of 10 homozygous mutants

dilated bile duct ( J:94582 )

• bile duct dilations were observed in 4/10 animals

renal/urinary system

kidney cyst ( J:94582 )

• 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

kidney inflammation ( J:94582 )

• small areas of mild inflammation are seen in cystic kidneys

renal interstitial fibrosis ( J:94582 )

• 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