Phenotypes Associated with This Genotype

Genotype
MGI:3795672

• Allelic Composition: Bloc1s5^mu/Bloc1s5^mu
• Genetic Background: CHMU/Le

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

hematopoietic system

hematopoietic system phenotype ( J:29151 )

N • normal platelet counts

abnormal platelet dense granule morphology ( J:29151 )

• although a normal number of dense granules stain with mepacrine, UV flashing is reduced by more than fivefold indicating an abnormal intragranular environment

decreased platelet dense granule number ( J:29151 )

• platelets nearly devoid of dense granules

decreased platelet serotonin level ( J:29151 )

• platelet serotonin levels are less than 8% those of normal

decreased platelet aggregation ( J:29151 )

• decreased aggregation both in the presence of high or low concentrations of collagen

abnormal platelet dense granule physiology ( J:29151 )

• very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes

homeostasis/metabolism

decreased platelet serotonin level ( J:29151 )

• platelet serotonin levels are less than 8% those of normal

decreased platelet aggregation ( J:29151 )

• decreased aggregation both in the presence of high or low concentrations of collagen

abnormal platelet dense granule physiology ( J:29151 )

• very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes

increased bleeding time ( J:29151 )

• bleed time is greater than 15 minutes

cellular

decreased lysosomal enzyme secretion ( J:29151 )

• lysosomal enzyme levels are increased in kidneys and there is an associated decrease in secretion into the urine

• thrombin induced release of glucuronidase from platelets is decreased, although to a lesser degree than in mocha homozygotes, and thrombin induced release of galactosidase is 60% to 70% of normal

pigmentation

abnormal retina pigment epithelium morphology ( J:29151 )

• although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules

abnormal melanosome morphology ( J:75830 )

• total numbers of melanosomes are reduced severely within the retinal pigment epithelium and within the choroid in adults

• remaining retinal pigment epithelium melanosomes are smaller and often contain unusual inclusions and lamellar bodies

• choroidal melanosomes often are less dense and may exhibit irregular outlines

hypopigmentation ( J:75830 )

• hypopigmentation of the coat, with fur or a light muted brown shade

decreased eye pigmentation ( J:75830 )

• hypopigmentation of the eyes is seen in young (less than 5 days of age) mice

vision/eye

abnormal retina pigment epithelium morphology ( J:29151 )

• although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules

decreased eye pigmentation ( J:75830 )

• hypopigmentation of the eyes is seen in young (less than 5 days of age) mice

renal/urinary system

abnormal proximal convoluted tubule morphology ( J:29151 )

• higher than normal autofluorescence, typical of ceroid-like pigment, is found in proximal tubules

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome		DOID:3753	OMIM:PS203300	J:29151 , J:75830
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:29151