B6Pin.C3-Ap3b1^pe/J

Stock number: 003215
Research areas: Dermatology Research, Hematological Research, Internal/Organ Research

Description

The homozygous pearl phenotype includes hypopigmentation of hair and eyes, prolonged bleeding times associated with platelet storage pool deficiency (SDP) and lysosomal accumulation of ceroid pigment. This combination of abnormalities is characteristic of a human hereditary disease, Hermansky-Pudlak syndrome. Pearl mice also exhibit reduced sensitivity in the dark-adapted state, altered somatostatin binding to the retina, and an increased rate of renal apoptosis, making them a potential model for human congenital stationary night blindness.

Detailed description

The homozygous pearl phenotype includes hypopigmentation of hair and eyes, prolonged bleeding times associated with platelet storage pool deficiency (SDP) and lysosomal accumulation of ceroid pigment. This combination of abnormalities is characteristic of a human hereditary disease, Hermansky-Pudlak syndrome. Pearl mice also exhibit reduced sensitivity in the dark-adapted state, altered somatostatin binding to the retina, and an increased rate of renal apoptosis, making them a potential model for human congenital stationary night blindness.

Development

The pearl mutation occurred spontaneously at the eighth generation of brother-sister inbreeding of strain C3H/He at Oak Ridge National Laboratory. It was backcrossed onto C57BL/6JPin by L.H. Pinto, at Northwestern University. The C3H-derived segment of Chr 13 extends at least through Srd5a proximally and D13Mit36 distally.

Allele

Symbol: Ap3b1^pe
Name: pearl
MGI accession ID: MGI:1856989
Generation method: Spontaneous
Synonyms: Ap3b1^pearl; pe
Marker symbol: Ap3b1
Marker name: adaptor-related protein complex 3, beta 1 subunit
Marker synonyms: ADTB3; ADTB3A; AP-3; beta3A; HPS; HPS2; PE; recombination induced mutation 2; rim2
Chromosome: 13
Strain of origin: C3H/He
Molecular note: The molecular mutation consists of a 793 bp tandem duplication that alters the reading frame and truncates the protein 130 amino acids from the C terminus.