Phenotypes associated with this allele

• Allele Symbol: Hps1^ep
• Allele Name: pale-ear
• Allele ID: MGI:1856712
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hps1^ep/Hps1^ep	B6.C3Fe-Hps1^ep/J	MGI:3588311
hm2	Hps1^ep/Hps1^ep	either: C3HeB/FeJ or (involves: C3HeB/FeJ * C57BL/6J)	MGI:3586966
hm3	Hps1^ep/Hps1^ep	involves: C3HeB/FeJ * C57BL/6J	MGI:3586967
ht4	Hps1^ep/Hps1^ep-6J	involves: C3HeB/FeJ * C57BL/6J	MGI:3586987
cx5	Hps1^ep/Hps1^ep Bloc1s6^pa/Bloc1s6^pa	B6.Cg-Bloc1s6 Hps1^ep	MGI:3719419
cx6	Ap3b1^pe/Ap3b1^pe Hps1^ep/Hps1^ep	involves: C3H/He * C3HeB/FeJ * C57BL/6J	MGI:3586968

Genotype
MGI:3588311

hm1

• 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

Genotype
MGI:3586966

hm2

• Allelic Composition: Hps1^ep/Hps1^ep
• Genetic Background: either: C3HeB/FeJ or (involves: C3HeB/FeJ * C57BL/6J)

vision/eye

decreased eye pigmentation ( J:5032 )

• reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth

• eyes darken with age

pigmentation

decreased ear pigmentation ( J:5032 )

• light colored ears

diluted coat color ( J:5032 )

• paler coat color as juveniles but becoming darker in adults

decreased tail pigmentation ( J:5032 )

• light colored tail

decreased eye pigmentation ( J:5032 )

• reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth

• eyes darken with age

abnormal melanosome morphology ( J:5032 )

• Background Sensitivity: smaller pigment granules reported on this mixed genetic background

craniofacial

decreased ear pigmentation ( J:5032 )

• light colored ears

hearing/vestibular/ear

decreased ear pigmentation ( J:5032 )

• light colored ears

limbs/digits/tail

decreased tail pigmentation ( J:5032 )

• light colored tail

integument

decreased ear pigmentation ( J:5032 )

• light colored ears

diluted coat color ( J:5032 )

• paler coat color as juveniles but becoming darker in adults

decreased tail pigmentation ( J:5032 )

• light colored tail

growth/size/body

decreased ear pigmentation ( J:5032 )

• light colored ears

Genotype
MGI:3586967

hm3

• Allelic Composition: Hps1^ep/Hps1^ep
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Eye tissue and skin melanocytes of wild-type and Hps1^ep/Hps1^ep mice

vision/eye

abnormal choroid pigmentation ( J:42484 )

• abnormally large melanosomes in choroidal melanocytes

abnormal ciliary body pigmentation ( J:6064 )

• reduced

abnormal retina morphology ( J:6064 )

• reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve

respiratory system

enlarged alveolar lamellar bodies ( J:85431 )

• type II epithelial cells with enlarged lamellar bodies

hematopoietic system

decreased platelet ATP level ( J:7327 )

• ATP levels reduced 1.4-2X

decreased platelet ADP level ( J:7327 )

• ADP levels reduced 2.6-6X

decreased platelet dense granule number ( J:42484 )

• very few dense bodies in platelets

decreased platelet serotonin level ( J:7327 )

• 4.5 fold reduction in platelet serotonin

abnormal macrophage physiology ( J:7869 )

• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride

• proenzymes are secreted however

abnormal platelet physiology ( J:7327 , J:42484 )

• reduced secretion of stored serotonin after thrombin stimulation (J:7327)

• increased secretion of lysosomal enzymes (J:7327)

• abnormal platelet aggregation, lower rate (J:42484)

• decreased ATP release (J:42484)

homeostasis/metabolism

decreased platelet ATP level ( J:7327 )

• ATP levels reduced 1.4-2X

decreased platelet serotonin level ( J:7327 )

• 4.5 fold reduction in platelet serotonin

abnormal platelet physiology ( J:7327 , J:42484 )

• reduced secretion of stored serotonin after thrombin stimulation (J:7327)

• increased secretion of lysosomal enzymes (J:7327)

• abnormal platelet aggregation, lower rate (J:42484)

• decreased ATP release (J:42484)

abnormal circulating enzyme level ( J:6219 )

• serum levels of beta glucuronidase and beta galactosidase elevated

increased bleeding time ( J:7327 )

abnormal urine homeostasis ( J:6219 )

• secretion of lysosomal enzymes in urine is decreased

renal/urinary system

enlarged kidney ( J:6219 )

• hypertrophy as a result of testosterone treatment

abnormal urine homeostasis ( J:6219 )

• secretion of lysosomal enzymes in urine is decreased

abnormal kidney physiology ( J:6219 )

• beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment

immune system

abnormal macrophage physiology ( J:7869 )

• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride

• proenzymes are secreted however

pigmentation

abnormal choroid pigmentation ( J:42484 )

• abnormally large melanosomes in choroidal melanocytes

abnormal ciliary body pigmentation ( J:6064 )

• reduced

abnormal melanosome morphology ( J:42484 )

• Background Sensitivity: melanosomes reported to be enlarged in cultured skin melanocytes on this genetic background

growth/size/body

enlarged kidney ( J:6219 )

• hypertrophy as a result of testosterone treatment

cellular

decreased platelet ATP level ( J:7327 )

• ATP levels reduced 1.4-2X

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:7416
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:7327

Genotype
MGI:3586987

ht4

• Allelic Composition: Hps1^ep/Hps1^ep-6J
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

craniofacial

abnormal ear pigmentation ( J:27518 )

• a complementation cross to Hps1^ep produced affected pups with pale ear

hearing/vestibular/ear

abnormal ear pigmentation ( J:27518 )

• a complementation cross to Hps1^ep produced affected pups with pale ear

pigmentation

abnormal ear pigmentation ( J:27518 )

• a complementation cross to Hps1^ep produced affected pups with pale ear

integument

abnormal ear pigmentation ( J:27518 )

• a complementation cross to Hps1^ep produced affected pups with pale ear

growth/size/body

abnormal ear pigmentation ( J:27518 )

• a complementation cross to Hps1^ep produced affected pups with pale ear

Genotype
MGI:3719419

cx5

• Allelic Composition: Hps1^ep/Hps1^ep; Bloc1s6^pa/Bloc1s6^pa
• Genetic Background: B6.Cg-Bloc1s6 Hps1^ep

pigmentation

diluted coat color ( J:99881 )

• display a generalized pigmented dilution similar to seen in single homozygous Pldn^pa mice

integument

diluted coat color ( J:99881 )

• display a generalized pigmented dilution similar to seen in single homozygous Pldn^pa mice

Genotype
MGI:3586968

cx6

• Allelic Composition: Ap3b1^pe/Ap3b1^pe; Hps1^ep/Hps1^ep
• Genetic Background: involves: C3H/He * C3HeB/FeJ * C57BL/6J

respiratory system

increased lung weight ( J:85431 )

• increased ratio of lung wet weight to body weight

lung inflammation ( J:85431 )

• large numbers of inflammatory cells increasing with age (5.6x normal at 1 year)

• most inflammatory cells in lungs are mononuclear macrophage

abnormal lung epithelium morphology ( J:85431 )

• lung epithelium with large numbers of giant cells containing "foamy" material

abnormal type II pneumocyte morphology ( J:85431 )

• type II cells and lamellar bodies are significantly enlarged

enlarged alveolar lamellar bodies ( J:85431 )

• massive lamellar bodies in type II cells (2.5-4.5 um and rarely to 28 um), engorged with surfactant

abnormal lung interstitium morphology ( J:85431 )

• large open air spaces in the lung parenchyma

emphysema ( J:85431 )

abnormal lung hysteresivity ( J:85431 )

• abnormal respiratory function as determined by in vivo measurement of lung hysteresivity

immune system

abnormal monocyte morphology ( J:85431 )

• mononuclear macrophage are of normal size at 8-15 weeks of age but enlarged at 1 year and containing foamy material

lung inflammation ( J:85431 )

• large numbers of inflammatory cells increasing with age (5.6x normal at 1 year)

• most inflammatory cells in lungs are mononuclear macrophage

hematopoietic system

abnormal monocyte morphology ( J:85431 )

• mononuclear macrophage are of normal size at 8-15 weeks of age but enlarged at 1 year and containing foamy material

growth/size/body

increased lung weight ( J:85431 )

• increased ratio of lung wet weight to body weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:85431
Hermansky-Pudlak syndrome 2		DOID:0060540	OMIM:608233	J:85431