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Phenotypes Associated with This Genotype
Genotype
MGI:2174727
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 (71 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
OMIM ID Ref(s)
Storage Pool Platelet Disease 185050 J:7327


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory