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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hps5ru2
ruby-eye 2
MGI:1856144
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hps5ru2/Hps5ru2 involves: C57BL MGI:4437300


Genotype
MGI:4437300
hm1
Allelic
Composition
Hps5ru2/Hps5ru2
Genetic
Background
involves: C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps5ru2 mutation (2 available); any Hps5 mutation (79 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• described as similar to the ruby-eye (ru) mutation
• 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

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

vision/eye
• 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

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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory