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Phenotypes Associated with This Genotype
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nek8jck mutation (1 available); any Nek8 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• 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
• 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)
• elevation in ratio of percent kidney weight to body weight at 7 weeks of age
• 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
• cultured kidneys in the presence of 8-bromo-cAMP show 3-fold higher cystogenic potentials than controls and treatment of these cultures with Gant61, a small molecule GLI antagonist, or Sant2, a small molecule SMO antagonist, inhibitors reduces cystogenic potential (J:213263)
• by 7 weeks of age, extensive cystic lesions replace normal renal parenchyma (J:79600)

• 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

• females do not consistently care for their pups; however both homozygous males and females are fertile

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.10
The Jackson Laboratory