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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hps5ru2-mr
maroon
MGI:1856146
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hps5ru2-mr/Hps5ru2-mr B6.Cg-Hps5ru2-mr/Re MGI:3805034
hm2
Hps5ru2-mr/Hps5ru2-mr Not Specified MGI:2174727


Genotype
MGI:3805034
hm1
Allelic
Composition
Hps5ru2-mr/Hps5ru2-mr
Genetic
Background
B6.Cg-Hps5ru2-mr/Re
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps5ru2-mr mutation (0 available); any Hps5 mutation (79 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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)

hematopoietic system
• platelet ADP levels are much lower than in C57BL/6J controls
• platelet ATP levels are much lower than in C57BL/6J controls
• decreased number of platelet dense granules compared with C57BL/6J controls
• 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
• 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)
• bleed time averaging over 14 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cardiovascular system
• on an atherogenic diet homozygotes develop fewer and smaller aortic lesions than do 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
Hps5ru2-mr/Hps5ru2-mr
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps5ru2-mr mutation (0 available); any Hps5 mutation (79 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• coat color varies from near normal to extreme pallid, even among littermates, and darkens with age
• eyes are colorless at birth, then darken to a rich maroon

renal/urinary system
• 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
• eyes are colorless at birth, then darken to a rich maroon

integument
• 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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2020
MGI 6.16
The Jackson Laboratory