Phenotypes associated with this allele

• Allele Symbol: Hps5^ru2-J
• Allele Name: ruby-eye 2 Jackson
• Allele ID: MGI:1856147
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hps5^ru2-J/Hps5^ru2-J	C57BL/6J-Hps5^ru2-J/J	MGI:2174726

Genotype
MGI:2174726

hm1

• Allelic Composition: Hps5^ru2-J/Hps5^ru2-J
• Genetic Background: C57BL/6J-Hps5^ru2-J/J

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

renal/urinary system

abnormal urine homeostasis ( 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

homeostasis/metabolism

abnormal urine homeostasis ( 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 5		DOID:0060543	OMIM:614074	J:81444