pigmentation
• slightly increased numbers of small and rounded melanosomes in the choroid
|
• slightly increased numbers of small and rounded melanosomes in the retinal pigment epithelium
• reduced eumelanin content compared with wild-type mice
|
hematopoietic system
• reduced without affecting the total platelet count
|
vision/eye
• slightly increased numbers of small and rounded melanosomes in the choroid
|
• slightly increased numbers of small and rounded melanosomes in the retinal pigment epithelium
• reduced eumelanin content compared with wild-type mice
|
cellular
N |
• no apparent changes of intracellular Notch1 (NTM) levels are observed in isolated mouse embryonic fibroblasts (MEFs) relative to wild-type MEFs
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Hermansky-Pudlak syndrome | DOID:3753 |
OMIM:PS203300 |
J:192646 |