Phenotypes Associated with This Genotype

Genotype
MGI:3588311

• Allelic Composition: Hps1^ep/Hps1^ep
• Genetic Background: B6.C3Fe-Hps1^ep/J

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

Wild-type and Hps1^ep/Hps1^ep littermates

cellular

decreased platelet ATP level ( J:7327 )

• platelet ATP levels are much lower than in C57BL/6J controls

abnormal lysosome physiology ( J:6801 )

• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts

increased lysosomal enzyme secretion ( J:7327 )

• thrombin stimulation of platelets results in approximately double the normal levels of secretion of beta-glucaronidase and beta-galactosidase

immune system

abnormal NK cell physiology ( J:6801 )

• lower natural killer cell activity

alveolitis ( J:110157 )

• mild lymphocytic infiltration of the alveolar septa but no fibrosis in some aged mice

pigmentation

decreased ear pigmentation ( J:99881 )

• display a reduction in pigmentation of the ears

decreased tail pigmentation ( J:99881 )

• display a reduction in pigmentation of the tail

abnormal iris pigmentation ( J:141035 )

• the iris is slightly dark

abnormal melanosome morphology ( J:80751 )

• marked increase in immature forms of melanosomes, with a shift of distribution of type IV melanosomes towards more elliptical forms

hematopoietic system

decreased platelet ATP level ( J:7327 )

• platelet ATP levels are much lower than in C57BL/6J controls

decreased platelet ADP level ( J:7327 )

• platelet ADP levels are much lower than in C57BL/6J controls

decreased platelet serotonin level ( J:7327 , J:29748 )

• 4.5 fold less platelet serotonin than in C57BL/6J control platelets (J:7327)

• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)

abnormal NK cell physiology ( J:6801 )

• lower natural killer cell activity

homeostasis/metabolism

decreased platelet ATP level ( J:7327 )

• platelet ATP levels are much lower than in C57BL/6J controls

decreased platelet serotonin level ( J:7327 , J:29748 )

• 4.5 fold less platelet serotonin than in C57BL/6J control platelets (J:7327)

• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)

increased bleeding time ( J:7327 )

• bleed time averaging over 14 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cardiovascular system

increased susceptibility to atherosclerosis ( J:29748 )

• on an atherogenic diet homozygotes develop larger atherosclerotic lesions in the aorta than C57BL/6J controls

vision/eye

abnormal iris pigmentation ( J:141035 )

• the iris is slightly dark

craniofacial

decreased ear pigmentation ( J:99881 )

• display a reduction in pigmentation of the ears

hearing/vestibular/ear

decreased ear pigmentation ( J:99881 )

• display a reduction in pigmentation of the ears

limbs/digits/tail

decreased tail pigmentation ( J:99881 )

• display a reduction in pigmentation of the tail

integument

decreased ear pigmentation ( J:99881 )

• display a reduction in pigmentation of the ears

decreased tail pigmentation ( J:99881 )

• display a reduction in pigmentation of the tail

respiratory system

alveolitis ( J:110157 )

• mild lymphocytic infiltration of the alveolar septa but no fibrosis in some aged mice

abnormal type II pneumocyte morphology ( J:110157 )

• progressive cytoplasmic foamy changes are observed in type II pneumocytes from P0 to 24 month of age, increasing in terms of both the affected cell number and degree of severity as mice age

• marked swelling and degenerative changes of type II pneumocytes (referred to as "giant lamellar body degeneration" or GLBD) in aged mice

enlarged alveolar lamellar bodies ( J:110157 )

• most lamellar bodies are increased in size at P0

• numerous giant-sized lamellar bodies are often fused with each other in aged mice

overexpanded pulmonary alveolus ( J:110157 )

• enlarged air spaces in aged mice

growth/size/body

decreased ear pigmentation ( J:99881 )

• display a reduction in pigmentation of the ears

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:80751
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:7327