Phenotypes Associated with This Genotype

Genotype
MGI:2673003

• Allelic Composition: Dtnbp1^sdy/Dtnbp1^sdy
• Genetic Background: involves: DBA/2J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

pigmentation

diluted coat color ( J:1958 )

abnormal eye pigmentation ( J:1958 )

• mice have diluted pigmentation in eyes

abnormal choroid melanin granule morphology ( J:85123 )

• mice had fewer melanosomes in the choroids

abnormal retina pigment epithelium morphology ( J:85123 )

• mice had fewer melanosomes in the retinal pigment epithelium

behavior/neurological

behavior/neurological phenotype ( J:85123 )

N • preliminary tests of mice, including prepulse inhibition tests identified no behavioral abnormalities

hematopoietic system

thrombocytopenia ( J:1958 )

• thrombin-stimulated platelets is depressed 2- and 3-fold

decreased platelet dense granule number ( J:85123 , J:1958 )

• absent (J:85123)

• platelet dense granules are reduced in number (J:1958)

decreased platelet serotonin level ( J:85123 )

• platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal

abnormal platelet physiology ( J:85123 , J:323340 )

• platelets have an abnormal uptake and flashing of mepacrine dye (J:85123)

• platelets exhibit significantly deficient uptake of mepacrine compared with wild-type cells (J:323340)

• platelets exposed to collagen or thrombin exhibit defective release of ATP compared with wild-type cells (J:323340)

decreased platelet aggregation ( J:85123 )

• platelets have a reduced rate of collagen-induced aggregation

muscle

muscle phenotype ( J:85123 )

N • mice have no obvious muscle abnormalities

renal/urinary system

abnormal kidney physiology ( J:1958 )

• secretion of lysosomal enzymes from kidney is depressed 2- and 3-fold

• ceroid pigment is present in the kidney

vision/eye

abnormal eye pigmentation ( J:1958 )

• mice have diluted pigmentation in eyes

abnormal retina pigment epithelium morphology ( J:85123 )

• mice had fewer melanosomes in the retinal pigment epithelium

abnormal optic choroid morphology ( J:85123 )

• choroids melanosomes were generally smaller and irregular

abnormal choroid melanin granule morphology ( J:85123 )

• mice had fewer melanosomes in the choroids

homeostasis/metabolism

decreased platelet serotonin level ( J:85123 )

• platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal

abnormal platelet physiology ( J:85123 , J:323340 )

• platelets have an abnormal uptake and flashing of mepacrine dye (J:85123)

• platelets exhibit significantly deficient uptake of mepacrine compared with wild-type cells (J:323340)

• platelets exposed to collagen or thrombin exhibit defective release of ATP compared with wild-type cells (J:323340)

decreased platelet aggregation ( J:85123 )

• platelets have a reduced rate of collagen-induced aggregation

increased bleeding time ( J:1958 )

• mice have a prolonged bleeding time

integument

diluted coat color ( J:1958 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 7		DOID:0060545	OMIM:614076	J:1958 , J:85123
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:1958