Mouse Genome Informatics
hm
    Ap3b1pe/Ap3b1pe
involves: C3H/He
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• smaller litter sizes at birth
• reduced litter sizes at weaning
• females tend to die during pregnancy and while nursing

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 (J:15331)

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 (J:15331)

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
• white "mask" around eyes
• a long, narrow mid ventral white streak is occasionally observed

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 2; HPS2 608233 J:52879 , J:80751
Storage Pool Platelet Disease 185050 J:7327