Phenotypes Associated with This Genotype

Genotype
MGI:3588317

• Allelic Composition: Bloc1s4^cno/Bloc1s4^cno
• Genetic Background: involves: C3H/HeJ

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

pigmentation

abnormal melanosome morphology ( J:80751 )

• smaller and abnormal melanosomes

abnormal melanosome maturation ( J:80751 )

• increase in the percentage of both multivesicular and type II/III melanosome forms (immature forms) and a relative lack of elliptical type IV forms

• pigmentation appears granular and irregulary deposited

abnormal melanosome size ( J:80751 )

• progression in size from precursor (type II/III) to mature (type IV) melanosome is abolished, suggesting that melanosome development is arrested at an early stage

small melanosome ( J:80751 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome		DOID:3753	OMIM:PS203300	J:80751