Mouse Genome Informatics
hm
    Cys1cpk/Cys1cpk
B6(Cg)-Cys1cpk/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die by 20-23 days of age (J:6718)
• die around 19 days of age (J:31533)

renal/urinary system
• urine is colorless in grossly affected mice
• large cysts distort the corticomedullary junction
• at 23 days of age, kidneys occupy almost the entire abdominal cavity (J:6718)
• at 17-24 days of age, average kidneys size was 16 mm x 11 mm compared to 6 mm x 3 mm in wild-type mice (J:6718)
• increase in kidney size is the result of both increased cystic fluid and increased cell mass (J:9290)
• kidney weight is increased in newborns and a progressive increase in kidney wet and dry weight as well as size is seen with age
• large cysts occupy the entire kidney, distort the corticomedullary junction, involve collecting ducts and other portions of the kidney, and are lined with flattened epithelium the is frequently squamous (J:6718)
• initially presents as dilation of the proximal tubule in fetal and newborn mice, then shifts to dilation of the cortical and medullary collecting ducts after the first week of life (J:9290)
• epithelial hyperplasia but not polypoid hyperplasia is seen in the cysts (J:9290)
• bilateral polycystic kidneys become apparent by 8 - 9 days of age

homeostasis/metabolism
• mean BUN was 120mg% compared to 0.2mg% in wild-type mice (J:6718)
• progressive azotemia seen starting at 1 week of age (J:9290)
• urine is colorless in grossly affected mice

growth/size
• seen at 10-13 days of age (J:6718)
• apparent by 8 - 9 days of age (J:31533)

hematopoietic system
• seen at 2 - 3 weeks of age

behavior/neurological
• become progressively lethargic

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:6718 , J:9290