Phenotypes Associated with This Genotype

Genotype
MGI:2429561

• Allelic Composition: Nek8^jck/Nek8^jck
• Genetic Background: involves: C57BL/6J

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

mortality/aging

premature death ( J:11885 )

• most homozygotes survive to 20 weeks but not longer than 25 weeks

renal/urinary system

kidney cyst ( J:11885 )

• 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

kidney cortex cyst ( J:11885 , J:79600 )

• 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)

kidney medulla cyst ( J:79600 )

♂ • by 7 weeks of age, extensive renal cysts lined by flattened epithelium are found in the kidney medulla

polycystic kidney ( J:79600 , J:213263 )

• 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)

enlarged kidney ( J:11885 , 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)

increased kidney weight ( J:213263 )

• elevation in ratio of percent kidney weight to body weight at 7 weeks of age

dilated kidney collecting duct ( J:79600 )

♂ • at 7 weeks of age, as shown by MRI imaging

homeostasis/metabolism

increased circulating creatinine level ( J:11885 )

• 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

abnormal maternal nurturing ( J:11885 )

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

growth/size/body

kidney cyst ( J:11885 )

• 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

kidney cortex cyst ( J:11885 , J:79600 )

• 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)

kidney medulla cyst ( J:79600 )

♂ • by 7 weeks of age, extensive renal cysts lined by flattened epithelium are found in the kidney medulla

polycystic kidney ( J:79600 , J:213263 )

• 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)

enlarged kidney ( J:11885 , 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)

increased kidney weight ( J:213263 )

• elevation in ratio of percent kidney weight to body weight at 7 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:11885