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Phenotypes Associated with This Genotype
Genotype
MGI:3587103
Allelic
Composition
Hps3coa/Hps3coa
Myo5ad/Myo5ad
Mregdsu/Mregdsu
Genetic
Background
involves: C57BL/10J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps3coa mutation (1 available); any Hps3 mutation (9 available)
Mregdsu mutation (1 available); any Mreg mutation (94 available)
Myo5ad mutation (127 available); any Myo5a mutation (168 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• lack eye pigment (J:29467)
• lack eye pigment (J:29467)

pigmentation
• paler coat color in both juveniles and adults (J:29467)
• ear pinna lack pigment at 3-4 days of age (J:29467)
• extremities light in color (J:29467)
• paler coat color in both juveniles and adults (J:29467)
• ear pinna lack pigment at 3-4 days of age (J:29467)
• extremities light in color (J:29467)
• lack eye pigment (J:29467)
• lack eye pigment (J:29467)

integument
• paler coat color in both juveniles and adults (J:29467)
• ear pinna lack pigment at 3-4 days of age (J:29467)
• extremities light in color (J:29467)
• paler coat color in both juveniles and adults (J:29467)
• ear pinna lack pigment at 3-4 days of age (J:29467)
• extremities light in color (J:29467)

Mouse Models of Human Disease
OMIM ID Ref(s)
Hermansky-Pudlak Syndrome 3; HPS3 614072 J:29467


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory