Mouse Genome Informatics
hm
    Pkd1tm1Djmp/Pkd1tm1Djmp
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• mutants weigh 40% less than wild-type littermates at weaning

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
• small areas of mild fibrosis are seen in cystic kidneys
• small areas of mild inflammation are seen in cystic kidneys
• 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

homeostasis/metabolism
• small areas of mild fibrosis are seen in cystic kidneys

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease 1; PKD1 173900 J:94582