Phenotypes associated with this allele

• Allele Symbol: Hps5^ru2
• Allele Name: ruby-eye 2
• Allele ID: MGI:1856144
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hps5^ru2/Hps5^ru2	involves: C57BL	MGI:4437300

Genotype
MGI:4437300

hm1

• Allelic Composition: Hps5^ru2/Hps5^ru2
• Genetic Background: involves: C57BL

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

pigmentation

diluted coat color ( J:20282 )

• described as similar to the ruby-eye (ru) mutation

abnormal eye pigmentation ( J:81444 )

• electron microscopy shows that there are fewer melanocytes in the retinal pigment epithelium and choroid, the remaining melanocytes in the retinal pigment epithelium are often disorganized and those in the choroid often have ragged outlines instead of the normal smooth exterior membranes and are often clumped within large multimelanosomal bodies

abnormal choroid pigmentation ( J:81444 )

abnormal retina pigment epithelium morphology ( J:81444 )

integument

diluted coat color ( J:20282 )

• described as similar to the ruby-eye (ru) mutation

vision/eye

abnormal eye pigmentation ( J:81444 )

• electron microscopy shows that there are fewer melanocytes in the retinal pigment epithelium and choroid, the remaining melanocytes in the retinal pigment epithelium are often disorganized and those in the choroid often have ragged outlines instead of the normal smooth exterior membranes and are often clumped within large multimelanosomal bodies

abnormal choroid pigmentation ( J:81444 )

abnormal retina pigment epithelium morphology ( J:81444 )

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