Phenotypes Associated with This Genotype

Genotype
MGI:4437300

• 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