Phenotypes Associated with This Genotype

Genotype
MGI:3588307

• Allelic Composition: Bloc1s3^rp/Bloc1s3^rp
• Genetic Background: involves: C57BL/10ScSn * C57BL/Tb

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

pigmentation

decreased ear pigmentation ( J:6470 )

• light colored ears

diluted coat color ( J:6470 )

• grey coat color

decreased tail pigmentation ( J:6470 )

• light colored tails

abnormal eye pigmentation ( J:6470 )

• dark eyes

abnormal melanosome morphology ( 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

• most fully pigmented melanosomes are spherical

• striated forms of melanosomes were elongated, but irregularly shaped and only approximated ellipsoidal shapes

abnormal hair shaft melanin granule morphology ( J:6470 )

• cortical and medullary pigment are reduced

• pigment granules in hair are smaller and not clumped

cellular

abnormal lysosome physiology ( J:6470 , J:6801 )

• significantly higher activity in kidney of the lysosomal enzymes, beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-hexoseaminidase (J:6470)

immune system

abnormal NK cell physiology ( J:6801 )

• lower natural killer cell activity

hearing/vestibular/ear

decreased ear pigmentation ( J:6470 )

• light colored ears

limbs/digits/tail

decreased tail pigmentation ( J:6470 )

• light colored tails

vision/eye

abnormal eye pigmentation ( J:6470 )

• dark eyes

craniofacial

decreased ear pigmentation ( J:6470 )

• light colored ears

behavior/neurological

enhanced behavioral response to anesthetic ( J:29294 )

• mutants exhibit increased sleeping time and prolonged bleeding times after treatment with pentobarbital, tribromoethanol, or the steroid anesthetic alphaxalone

integument

decreased ear pigmentation ( J:6470 )

• light colored ears

abnormal hair shaft melanin granule morphology ( J:6470 )

• cortical and medullary pigment are reduced

• pigment granules in hair are smaller and not clumped

diluted coat color ( J:6470 )

• grey coat color

decreased tail pigmentation ( J:6470 )

• light colored tails

hematopoietic system

abnormal NK cell physiology ( J:6801 )

• lower natural killer cell activity

growth/size/body

decreased ear pigmentation ( J:6470 )

• light colored ears

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 8		DOID:0060546	OMIM:614077	J:80751