Mouse Genome Informatics
hm
    Ap3b1pe-rim2/Ap3b1pe-rim2
involves: B10.A(R201) * C57BL/10Slc
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Abnormal eye pigmentation of the Ap3b1pe-rim2/Ap3b1pe-rim2 mouse.

hematopoietic system
• storage pools of the adenine nucleotide ADP is significantly decreased
• storage pools of the adenine nucleotides ATP is significantly reduced
• collagen-induced aggregation of platelets is lower in mutants than in controls
• platelets showed absence of released ATP from the platelets
• the levels of specific uptake of serotonin and mepacrine into dense granules are only half those of the control

pigmentation
• reduction of pigment in the fur, ears and tail
• at birth, an absence of eye pigmentation is noted
• with age, the eye pigment increases to wild-type levels
• less pigment is detected in the retinal pigment epithelium and choroidea than controls

vision/eye
• at birth, an absence of eye pigmentation is noted
• with age, the eye pigment increases to wild-type levels
• less pigment is detected in the retinal pigment epithelium and choroidea than controls
• frequently observed
• frequently observed

homeostasis/metabolism
• collagen-induced aggregation of platelets is lower in mutants than in controls
• platelets showed absence of released ATP from the platelets
• the levels of specific uptake of serotonin and mepacrine into dense granules are only half those of the control

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 2; HPS2 608233 J:42685
Storage Pool Platelet Disease 185050 J:42685