Analysis Tools
mortality/aging
| N |
• homozygotes on a pure 129P2/OlaHsd genetic background are viable beyond 12 months of age
• Background Sensitivity: most homozygotes generated on a congenic C57BL/6J background (N6) die in utero
|
vision/eye
|
• progressive degeneration of photoreceptor inner segments starting at 4 weeks of age
|
|
• progressive degeneration of photoreceptor outer segments starting at 4 weeks of age
|
|
• at 4 weeks of age
|
|
• severe reduction of the outer nuclear layer at 6 and 12 months of age
|
|
• progressive retinal degeneration starting at 4 weeks of age
|
behavior/neurological
polydipsia
(
J:212182
)
renal/urinary system
|
• primary cilia are present on the epithelial cells of non-cystic and cystic renal tubules but are significantly reduced in number
|
|
• in 3D spheroid culture, primary kidney cells show loss of ciliation
• treatment of cells with a CDK1/2 inhibitor rescues ciliation
|
kidney cyst
(
J:212182
)
|
• progressive cystic kidney disease, reminiscent of nephronophthisis
|
|
• small cysts develop within the renal cortex of most but not all homozygous neonates
• cysts become more prominent and more numerous at 2 weeks of age and persist up to 1 year of age
• renal cysts are confirmed to be of collecting duct in origin
|
|
• progressive renal collecting duct cystic disease, with microcysts present from birth to 1 year of age
• collecting duct cyst formation is associated with a reduction in number of primary cilia and abnormal Hedgehog signaling
|
nervous system
| N |
• no evidence of a gross foliation defect within the cerebellum
|
hydrocephaly
(
J:212182
)
|
• early onset hydrocephalus, evident at 1 month of age
|
|
• cerebral abnormalities
|
|
• progressive degeneration of photoreceptor inner segments starting at 4 weeks of age
|
|
• progressive degeneration of photoreceptor outer segments starting at 4 weeks of age
|
cellular
|
• primary cilia are present on the epithelial cells of non-cystic and cystic renal tubules but are significantly reduced in number
|
|
• in 3D spheroid culture, primary kidney cells show loss of ciliation
• treatment of cells with a CDK1/2 inhibitor rescues ciliation
|
|
• supernumerary centrioles in primary kidney cells
• treatment of cells with a CDK1/2 inhibitor rescues the centriole numbers
|
|
• increase in double-stranded breaks in DNA
• treatment of primary kidney cells with a CDK1/2 inhibitor rescues the increase in DNA breaks
|
|
• primary kidney cells exhibit aberrant DNA content profile that does not match 2N or 4N DNA
• replication fork velocity is decreased in primary kidney cells and cells have an increase in asymmetric forks, indicating a loss of fork stability and replication stress
|
homeostasis/metabolism
|
• increase in double-stranded breaks in DNA
• treatment of primary kidney cells with a CDK1/2 inhibitor rescues the increase in DNA breaks
|
|
• primary kidney cells exhibit aberrant DNA content profile that does not match 2N or 4N DNA
• replication fork velocity is decreased in primary kidney cells and cells have an increase in asymmetric forks, indicating a loss of fork stability and replication stress
|
growth/size/body
kidney cyst
(
J:212182
)
|
• progressive cystic kidney disease, reminiscent of nephronophthisis
|
|
• small cysts develop within the renal cortex of most but not all homozygous neonates
• cysts become more prominent and more numerous at 2 weeks of age and persist up to 1 year of age
• renal cysts are confirmed to be of collecting duct in origin
|
liver/biliary system
| N |
• no evidence of liver cysts or fibrosis at 1 month of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Joubert syndrome 5 | DOID:0111000 |
OMIM:610188 |
J:212182 , J:226246 | |
