Phenotypes Associated with This Genotype

Genotype
MGI:3587102

• Allelic Composition: Hps3^coa/Hps3^coa
• Genetic Background: involves: C57BL/10J

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

vision/eye

abnormal choroid pigmentation ( J:72606 )

• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies

abnormal retina pigmentation ( J:72606 )

• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium

absent eye pigmentation ( J:9300 )

• lack eye pigment

pigmentation

diluted coat color ( J:9300 )

• paler coat color in both juveniles and adults

• ear pinna lack pigment at 3-4 days of age

• extremities light in color

abnormal choroid pigmentation ( J:72606 )

• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies

abnormal retina pigmentation ( J:72606 )

• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium

absent eye pigmentation ( J:9300 )

• lack eye pigment

abnormal melanosome morphology ( J:80751 )

• shift toward more immature forms of melanosomes

• few ellipsoid melanosomes

• striated melanosomes predominantly round

• spherical multivesicular bodies also present

hematopoietic system

decreased platelet ATP level ( J:9300 )

• decreased ATP release, as tested using collagen as an agonist

• lysosomal enzymes normal

decreased platelet dense granule number ( J:9300 )

• fewer dense bodies in platelets, with ~30% of platelets having no detectable dense granules, as examined by electron microscopy

• normal numbers of dense granules are present, as determined by the mepacrine method; however, the intragranular environment of dense granules is abnormal as only 2% of granules flash after exposure to ultraviolet light

decreased platelet serotonin level ( J:9300 )

• 8-fold reduction in platelet serotonin

decreased platelet aggregation ( J:9300 )

abnormal platelet dense granule physiology ( J:9300 )

• amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect

homeostasis/metabolism

decreased platelet ATP level ( J:9300 )

• decreased ATP release, as tested using collagen as an agonist

• lysosomal enzymes normal

decreased platelet serotonin level ( J:9300 )

• 8-fold reduction in platelet serotonin

decreased platelet aggregation ( J:9300 )

abnormal platelet dense granule physiology ( J:9300 )

• amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect

increased bleeding time ( J:9300 )

• more than 15 minutes as opposed to 1 or 2 minutes

integument

diluted coat color ( J:9300 )

• paler coat color in both juveniles and adults

• ear pinna lack pigment at 3-4 days of age

• extremities light in color

cellular

decreased platelet ATP level ( J:9300 )

• decreased ATP release, as tested using collagen as an agonist

• lysosomal enzymes normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 3		DOID:0060541	OMIM:614072	J:9300 , J:80751
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:9300