mortality/aging
• females tend to die during pregnancy and while nursing
|
• smaller litter sizes at birth
|
• reduced litter sizes at weaning
|
pigmentation
• about 6% of homozygotes have normal color patches
(J:6739)
• if more than 5% of coat is normally pigmented then germinal reversion is also seen
(J:6739)
|
• greatest at the base of hairs but affecting the whole hair
• snout, ears, feet and tail particularly lighter than controls
• the characteristic yellowish mask around the eyes is diluted to near-white
|
• white "mask" around eyes
• a long, narrow mid ventral white streak is occasionally observed
|
• at birth but normal in adults
|
• immature melanosome forms (type II/III) accumulate to a certain degree but fully mature forms are also observed
• increase in membrane blebbing on type IV melanosomes, suggesting abnormal vesicular trafficking
|
homeostasis/metabolism
• much reduced levels of serotonin in platelets and in each large dense granule
|
• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)
|
reproductive system
• about 1 in 7 females is sterile
|
vision/eye
• at birth but normal in adults
|
hematopoietic system
• decreased numbers of dense granules/platelet
• platelet numbers are normal
|
• much reduced levels of serotonin in platelets and in each large dense granule
|
• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)
|
behavior/neurological
• females that survive pregnancy and lactation make poor mothers
|
integument
• about 6% of homozygotes have normal color patches
(J:6739)
• if more than 5% of coat is normally pigmented then germinal reversion is also seen
(J:6739)
|
• greatest at the base of hairs but affecting the whole hair
• snout, ears, feet and tail particularly lighter than controls
• the characteristic yellowish mask around the eyes is diluted to near-white
|
• a long, narrow mid ventral white streak is occasionally observed
• white "mask" around eyes
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Hermansky-Pudlak syndrome 2 | DOID:0060540 |
OMIM:608233 |
J:52879 , J:80751 | |
platelet storage pool deficiency | DOID:2223 |
OMIM:185050 |
J:7327 |