Mouse Genome Informatics
hm
    Hps5ru2-mr/Hps5ru2-mr
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Storage Pool Platelet Disease 185050 J:7327