Phenotypes for a Hps6 Lyst MGI:4454431 MGI Mouse

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Phenotypes Associated with This Genotype

Allelic Composition	a/a Hps6^ru/Hps6^ru Lyst^bg/Lyst^bg
Genetic Background	involves: C3H/Rl * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (166 available); any a mutation (468 available)
Hps6^ru mutation (3 available); any Hps6 mutation (26 available)
Lyst^bg mutation (6 available); any Lyst mutation (227 available)

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

pigmentation

abnormal melanosome morphology ( J:5346 )

• reorganization of fibrillar melanosomes into particulate melanin granules, such that only 5% of melanosomes in the choroid and 60% in the retina are fibrillar in nature, the rest are particulate

abnormal retina melanin granule morphology ( J:5346 )

• 80% of premelanosomes in the retina are fused to form giant premelanosomes

abnormal melanogenesis ( J:5346 )

• premelanosome formation in the choroid is delayed until after birth

vision/eye

abnormal retina melanin granule morphology ( J:5346 )

• 80% of premelanosomes in the retina are fused to form giant premelanosomes

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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