Phenotypes Associated with This Genotype

Genotype
MGI:2174727

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

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

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