Phenotypes associated with this allele

• Allele Symbol: Hps4^le
• Allele Name: light-ear
• Allele ID: MGI:1856931
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hps4^le/Hps4^le	B6.C3-Pde6b^rd1 Hps4^le	MGI:3587187
hm2	Hps4^le/Hps4^le	involves: C3H/HeJ	MGI:3587186
cx3	Hps4^le/Hps4^le Pde6b^rd1/Pde6b^rd1	B6.C3-Pde6b^rd1 Hps4^le	MGI:3803329
cx4	Hps4^le/Hps4^le Pde6b^rd1/Pde6b^rd1	B6.C3-Pde6b^rd1 Hps4^le/J	MGI:5700318

Genotype
MGI:3587187

hm1

• Allelic Composition: Hps4^le/Hps4^le
• Genetic Background: B6.C3-Pde6b^rd1 Hps4^le

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

cellular

decreased lysosomal enzyme secretion ( J:5967 , J:61552 )

• small elevations seen in liver and spleen (J:5967)

• retained by cells rather than being secreted (J:61552)

• elevated levels of enzymes in cells in culture (J:61552)

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

renal/urinary system

decreased urine protein level ( J:5967 , J:7416 )

• Testosterone induced excretion of beta-galactosidase only one third level in controls and kidney levels are 4X control levels, synthesis increased 5X (J:5967)

• of lysosomal enzymes (J:7416)

• results in accumulation of lysosomal enzymes in proximal tubule cells of the kidney (J:7416)

pigmentation

abnormal choroid pigmentation ( J:75144 )

• giant melanosomes present

abnormal retina pigment epithelium morphology ( J:75144 )

• reduced number of melanosomes and reduced pigment content in remaining melanosomes

abnormal melanosome morphology ( J:80751 )

• increased proportion of immature forms

vision/eye

abnormal choroid pigmentation ( J:75144 )

• giant melanosomes present

abnormal retina pigment epithelium morphology ( J:75144 )

• reduced number of melanosomes and reduced pigment content in remaining melanosomes

hematopoietic system

abnormal platelet dense granule morphology ( J:7327 )

• decreased numbers of large dense granules per platelet

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

• 4.5 fold less serotonin present (J:7327)

• uptake deficient (J:7327)

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

abnormal platelet physiology ( J:11990 )

• hypersecretion of lysosomal enzymes after thrombin stimulation

homeostasis/metabolism

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

• 4.5 fold less serotonin present (J:7327)

• uptake deficient (J:7327)

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

abnormal platelet physiology ( J:11990 )

• hypersecretion of lysosomal enzymes after thrombin stimulation

increased bleeding time ( J:7327 )

• prolonged bleeding times with relatively normal platelet numbers

decreased urine protein level ( J:5967 , J:7416 )

• Testosterone induced excretion of beta-galactosidase only one third level in controls and kidney levels are 4X control levels, synthesis increased 5X (J:5967)

• of lysosomal enzymes (J:7416)

• results in accumulation of lysosomal enzymes in proximal tubule cells of the kidney (J:7416)

cardiovascular system

decreased susceptibility to atherosclerosis ( J:29748 )

• on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls

• 56% of homozygotes survive to 48 weeks of age on an atherogenic diet, when no C57BL/6J controls survive, and, although there are significant atherogenic lesions in these 48 week old homozygotes, the lesions are smaller than those in 39 week old C57BL/6J controls fed the atherosclerotic diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 4		DOID:0060542	OMIM:614073	J:75144
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:7327

Genotype
MGI:3587186

hm2

• Allelic Composition: Hps4^le/Hps4^le
• Genetic Background: involves: C3H/HeJ

vision/eye

abnormal eye pigmentation ( J:5032 )

• reduced eye pigment at birth but eyes darkens with age

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

pigmentation

diluted coat color ( J:5032 )

• paler coat color in juveniles normalizes with age

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

abnormal skin pigmentation ( J:5032 )

• reduced skin pigmentation of ears is noticeble at 3-4 days of age

abnormal ear pigmentation ( J:5032 )

• reduced pigment in pinna of ears

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

abnormal eye pigmentation ( J:5032 )

• reduced eye pigment at birth but eyes darkens with age

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

abnormal melanosome morphology ( J:5032 )

• eumelanin granules in hair smaller than normal

hearing/vestibular/ear

abnormal ear pigmentation ( J:5032 )

• reduced pigment in pinna of ears

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

craniofacial

abnormal ear pigmentation ( J:5032 )

• reduced pigment in pinna of ears

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

integument

diluted coat color ( J:5032 )

• paler coat color in juveniles normalizes with age

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

abnormal skin pigmentation ( J:5032 )

• reduced skin pigmentation of ears is noticeble at 3-4 days of age

abnormal ear pigmentation ( J:5032 )

• reduced pigment in pinna of ears

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

growth/size/body

abnormal ear pigmentation ( J:5032 )

• reduced pigment in pinna of ears

• on a nonagouti or agouti background this genotype is indistinguishable from homozygous Hps1^ep

Genotype
MGI:3803329

cx3

• Allelic Composition: Hps4^le/Hps4^le; Pde6b^rd1/Pde6b^rd1
• Genetic Background: B6.C3-Pde6b^rd1 Hps4^le

vision/eye

vision/eye phenotype ( J:5812 )

N • mice exhibit a normal proportion of bipolar cells to Muller cells during postnatal development

abnormal retina inner nuclear layer morphology ( J:5812 )

• change in width

craniofacial

decreased ear pigmentation ( J:5812 )

• mice exhibit light ears

hearing/vestibular/ear

decreased ear pigmentation ( J:5812 )

• mice exhibit light ears

pigmentation

decreased ear pigmentation ( J:5812 )

• mice exhibit light ears

integument

decreased ear pigmentation ( J:5812 )

• mice exhibit light ears

growth/size/body

decreased ear pigmentation ( J:5812 )

• mice exhibit light ears

Genotype
MGI:5700318

cx4

• Allelic Composition: Hps4^le/Hps4^le; Pde6b^rd1/Pde6b^rd1
• Genetic Background: B6.C3-Pde6b^rd1 Hps4^le/J

hematopoietic system

abnormal platelet activation ( J:221384 )

• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation

• agonist-dependent lysosome release in platelets is impaired

• stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets

decreased platelet aggregation ( J:221384 )

• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated

homeostasis/metabolism

abnormal platelet activation ( J:221384 )

• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation

• agonist-dependent lysosome release in platelets is impaired

• stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets

decreased platelet aggregation ( J:221384 )

• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 4		DOID:0060542	OMIM:614073	J:221384