About   Help   FAQ
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 (77 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/13/2017
MGI 6.10
The Jackson Laboratory