renal/urinary system
kidney cyst
(
J:72238
)
• microscopic cysts are seen throughout the nephron in about 50% of heterozygotes before 9 months of age and are detected as early as 3 months of age
• macroscopic cysts are occasionally seen in heterozygotes from 4 to 19 months of age
• cysts are often lined with hyperplastic or apoptotic cells
|
liver/biliary system
liver cyst
(
J:72238
)
• liver cysts are occasionally seen in heterozygotes from 19 months of age
|
growth/size/body
kidney cyst
(
J:72238
)
• microscopic cysts are seen throughout the nephron in about 50% of heterozygotes before 9 months of age and are detected as early as 3 months of age
• macroscopic cysts are occasionally seen in heterozygotes from 4 to 19 months of age
• cysts are often lined with hyperplastic or apoptotic cells
|
liver cyst
(
J:72238
)
• liver cysts are occasionally seen in heterozygotes from 19 months of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
polycystic kidney disease 1 | DOID:0110858 |
OMIM:173900 |
J:72238 |