Phenotypes associated with this allele

• Allele Symbol: Hps5^ru2-mr
• Allele Name: maroon
• Allele ID: MGI:1856146
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hps5^ru2-mr/Hps5^ru2-mr	B6.Cg-Hps5^ru2-mr/Re	MGI:3805034
hm2	Hps5^ru2-mr/Hps5^ru2-mr	Not Specified	MGI:2174727

Genotype
MGI:3805034

hm1

• Allelic Composition: Hps5^ru2-mr/Hps5^ru2-mr
• Genetic Background: B6.Cg-Hps5^ru2-mr/Re

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

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 dense granule number ( J:7327 )

• decreased number of platelet dense granules compared with C57BL/6J controls

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

• platelet serotonin levels are less than 7% of normal platelet serotonin levels (J:7327)

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

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 )

• platelet serotonin levels are less than 7% of normal platelet serotonin levels (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

decreased susceptibility to atherosclerosis ( J:29748 )

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

cellular

decreased platelet ATP level ( J:7327 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:7327

Genotype
MGI:2174727

hm2

• Allelic Composition: Hps5^ru2-mr/Hps5^ru2-mr
• Genetic Background: Not Specified

pigmentation

diluted coat color ( J:15003 )

• coat color varies from near normal to extreme pallid, even among littermates, and darkens with age

decreased eye pigmentation ( J:15003 )

• eyes are colorless at birth, then darken to a rich maroon

renal/urinary system

abnormal kidney physiology ( J:6422 )

• kidney concentrations of the lysosomal enzymes beta-glucuronidase and beta-galactosidase are almost twice as high as normal

• the enzymes are synthesized at a normal rate but excreted into the urine at a reduced rate

• lysosomal morphology is normal

vision/eye

decreased eye pigmentation ( J:15003 )

• eyes are colorless at birth, then darken to a rich maroon

integument

diluted coat color ( J:15003 )

• coat color varies from near normal to extreme pallid, even among littermates, and darkens with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:7327