Mouse Genome Informatics
hm
    Dtnbp1sdy/Dtnbp1sdy
involves: DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
pigmentation
• mice have diluted pigmentation in eyes
• mice had fewer melanosomes in the choroids
• mice had fewer melanosomes in the retinal pigment epithelium

behavior/neurological
N
• preliminary tests of mice, including prepulse inhibition tests identified no behavioral abnormalities (J:85123)

hematopoietic system
• thrombin-stimulated platelets is depressed 2- and 3-fold
• platelet dense granules are reduced in number
• platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
• platelets have an abnormal uptake and flashing of mepacrine dye
• platelets have a reduced rate of collagen-induced aggregation

muscle
N
• mice have no obvious muscle abnormalities (J:85123)

renal/urinary system
• secretion of lysosomal enzymes from kidney is depressed 2- and 3-fold
• ceroid pigment is present in the kidney

vision/eye
• mice have diluted pigmentation in eyes
• mice had fewer melanosomes in the retinal pigment epithelium
• choroids melanosomes were generally smaller and irregular
• mice had fewer melanosomes in the choroids

homeostasis/metabolism
• platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
• mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time
• platelets have an abnormal uptake and flashing of mepacrine dye
• platelets have a reduced rate of collagen-induced aggregation

integument

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 7; HPS7 614076 J:1958 , J:85123
Storage Pool Platelet Disease 185050 J:1958