Mouse Genome Informatics
hm
    Nek8jck/Nek8jck
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most homozygotes survive to 20 weeks but not longer than 25 weeks

renal/urinary system
• at 7 weeks of age, as shown by MRI imaging (J:79600)
• palpable by 7 weeks of age (J:11885)
• at 7 weeks of age, a 4-fold increase in kidney volume is observed, as assessed by MRI imaging (J:79600)
• E13.5 kidneys grown in vitro for 5 days with 8-Br-cAMP in the culture media display cyst formation, with higher cystic percentage than heterozygous or wild-type kidneys
• isolated cysts lined with cuboidal epithelial cells are seen by P3 (J:11885)
• by P15, cysts lined with flattened epithelial cells cover about 15% of the cortex region (J:11885)
• cysts are mostly cortical with some outer medullary involvement; however no cysts are seen in the liver spleen, or pancreas (J:11885)
• by 7 weeks of age, extensive renal cysts lined by flattened epithelium are found in the kidney cortex (J:79600)
• by 7 weeks of age, extensive renal cysts lined by flattened epithelium are found in the kidney medulla (J:79600)
• by 7 weeks of age, extensive cystic lesions replace normal renal parenchyma (J:79600)

homeostasis/metabolism
• linear increase in serum creatinine with age from 0.3 mg/dl at 40 days to 1.0 mg/dl at 120 day compared to less than 0.12 mg/dl in controls

behavior/neurological
• females do not consistently care for their pups; however both homozygous males and females are fertile (J:11885)

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:11885