Phenotypes Associated with This Genotype

Genotype
MGI:3587678

• Allelic Composition: Bloc1s5^mu/Bloc1s5^mu
• Genetic Background: involves: STOCK t

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

behavior/neurological

abnormal postural reflex ( J:29164 )

impaired swimming ( J:89392 )

• mice show variable ability to swim

head tilt ( J:29164 )

vision/eye

abnormal eye pigmentation ( J:29164 )

• light eyes at birth

hearing/vestibular/ear

abnormal otolith morphology ( J:89392 )

• variable absence of otoconia; some mice lack otoconia and some have reduced levels

absent otoliths ( J:5145 )

• many lack otoliths in one or both ears

abnormal linear vestibular evoked potential ( J:89392 )

• mice with absent otoconia show absent vestibular compound action potentials

• variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present

homeostasis/metabolism

decreased platelet ATP level ( J:29151 )

• no releasable ATP

decreased platelet serotonin level ( J:29151 )

• serotonin levels in platelets is 8% of control levels

abnormal platelet physiology ( J:29151 )

• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high

decreased platelet aggregation ( J:29151 )

• reduced platelet aggregation induced by collagen

increased bleeding time ( J:29151 )

• greater than 15 minutes

decreased urine protein level ( J:29151 )

• decreased rate of lysosomal enzyme excretion into urine

renal/urinary system

decreased urine protein level ( J:29151 )

• decreased rate of lysosomal enzyme excretion into urine

abnormal proximal convoluted tubule morphology ( J:29151 )

• increased ceroid-like pigment detectable in proximal tubules

cellular

decreased platelet ATP level ( J:29151 )

• no releasable ATP

lysosomal protein accumulation ( J:29151 )

• increased levels of beta-glucuronidase, beta-galactosidase, and beta-glucosidase in the kidney but not liver or platelet

pigmentation

diluted coat color ( J:29164 , J:88797 )

• muted brown fur with white under fur (J:29164)

• color intensity about 80% that of controls (J:88797)

abnormal eye pigmentation ( J:29164 )

• light eyes at birth

abnormal melanosome morphology ( J:88797 )

• marked absence of fully pigmented, elongated melanosomes in skin

• accumulation of abnormal vescicular forms

• many striated melanosomes

• impaired melanosome maturation and reduced numbers per unit area

• immature melanosomes exocytosed by melanocytes and taken up keratinocytes

hematopoietic system

abnormal platelet dense granule morphology ( J:29151 )

• lack of dense granules with clear outlines

decreased platelet ATP level ( J:29151 )

• no releasable ATP

decreased platelet serotonin level ( J:29151 )

• serotonin levels in platelets is 8% of control levels

abnormal platelet physiology ( J:29151 )

• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high

decreased platelet aggregation ( J:29151 )

• reduced platelet aggregation induced by collagen

integument

diluted coat color ( J:29164 , J:88797 )

• muted brown fur with white under fur (J:29164)

• color intensity about 80% that of controls (J:88797)

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