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Phenotypes Associated with This Genotype
Genotype
MGI:3588307
Allelic
Composition
Bloc1s3rp/Bloc1s3rp
Genetic
Background
involves: C57BL/10ScSn * C57BL/Tb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bloc1s3rp mutation (1 available); any Bloc1s3 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• light colored ears (J:6470)
• light colored ears (J:6470)
• grey coat color (J:6470)
• grey coat color (J:6470)
• light colored tails (J:6470)
• light colored tails (J:6470)
• dark eyes (J:6470)
• dark eyes (J:6470)
• increase in the percentage of both multivesicular and type II/III melanosome forms (immature forms) and a relative lack of elliptical type IV forms (J:80751)
• most fully pigmented melanosomes are spherical (J:80751)
• striated forms of melanosomes were elongated, but irregularly shaped and only approximated ellipsoidal shapes (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 (J:80751)
• most fully pigmented melanosomes are spherical (J:80751)
• striated forms of melanosomes were elongated, but irregularly shaped and only approximated ellipsoidal shapes (J:80751)
• cortical and medullary pigment are reduced (J:6470)
• pigment granules in hair are smaller and not clumped (J:6470)
• cortical and medullary pigment are reduced (J:6470)
• pigment granules in hair are smaller and not clumped (J:6470)

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

immune system
• lower natural killer cell activity (J:6801)
• lower natural killer cell activity (J:6801)

hearing/vestibular/ear
• light colored ears (J:6470)
• light colored ears (J:6470)

limbs/digits/tail
• light colored tails (J:6470)
• light colored tails (J:6470)

vision/eye
• dark eyes (J:6470)
• dark eyes (J:6470)

craniofacial
• light colored ears (J:6470)
• light colored ears (J:6470)

behavior/neurological
• mutants exhibit increased sleeping time and prolonged bleeding times after treatment with pentobarbital, tribromoethanol, or the steroid anesthetic alphaxalone (J:29294)
• mutants exhibit increased sleeping time and prolonged bleeding times after treatment with pentobarbital, tribromoethanol, or the steroid anesthetic alphaxalone (J:29294)

integument
• light colored ears (J:6470)
• light colored ears (J:6470)
• cortical and medullary pigment are reduced (J:6470)
• pigment granules in hair are smaller and not clumped (J:6470)
• cortical and medullary pigment are reduced (J:6470)
• pigment granules in hair are smaller and not clumped (J:6470)
• grey coat color (J:6470)
• grey coat color (J:6470)
• light colored tails (J:6470)
• light colored tails (J:6470)

hematopoietic system
• lower natural killer cell activity (J:6801)
• lower natural killer cell activity (J:6801)

growth/size/body
• light colored ears (J:6470)
• light colored ears (J:6470)

Mouse Models of Human Disease
OMIM ID Ref(s)
Hermansky-Pudlak Syndrome 8; HPS8 614077 J:80751


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