Analysis Tools
renal/urinary system
|
• kidney concentrations of the lysosomal enzymes beta-glucuronidase and beta-galactosidase are almost twice as high as normal
• the enzymes are synthesized at a normal rate but excreted into the urine at a reduced rate
• lysosomal morphology is normal
|
homeostasis/metabolism
|
• kidney concentrations of the lysosomal enzymes beta-glucuronidase and beta-galactosidase are almost twice as high as normal
• the enzymes are synthesized at a normal rate but excreted into the urine at a reduced rate
• lysosomal morphology is normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hermansky-Pudlak syndrome 5 | DOID:0060543 |
OMIM:614074 |
J:81444 | |
