Analysis Tools
mortality/aging
|
• 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
|
|
• 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)
|
|
• 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
|
|
|
• at 7 weeks of age, as shown by MRI imaging
|
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
|
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
|
|
• 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)
|
|
• 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
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 | J:11885 | ||
