B10.A/SgSnJ-Hps3^coa-5J/J

Stock number: 002472
Product name: cocoa 5 Jackson
Research areas: Dermatology Research, Hematological Research

Description

These mice carry a spontaneous, recessive coa re-mutation at the Hps3 locus.

Detailed description

Mice carrying coa mutations are characterized by hypopigmentation and platelet dysfunction, similar to Hermansky-Pudlak syndrome (HPS) in humans. The syndrome compromises a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules.

The underlying mutation responsible for the phenotype in the Hps3^coa-5J mouse was identified as an A to T substitution. This mutation creates a stop codon, Lys627Stop.

Development

The coa^5J re-mutation arose spontaneously on the B10.A/SgSnJ strain of The Jackson Laboratory production colony in 1994 when that strain was at F58. It was maintained via sibling mating, primarily homozygote x heterozygote, then in 1995 and 1996 embryos were generated for cryopreservation from heterozygous females and homozygous males that were at generation F58+3 to F58+6. coa^5J was shown to be a cocoa allele through allele test with the original coa mutation.

Allele

Symbol: Hps3^coa-5J
Name: cocoa 5 Jackson
MGI accession ID: MGI:1858033
Generation method: Spontaneous
Marker symbol: Hps3
Marker name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Marker synonyms: BLOC2S1; Hermansky-Pudlak syndrome 3; SUTAL
Chromosome: 3
Strain of origin: B10.A-H2^a H2-T18^a/SgSnJ
Molecular note: The underlying mutation responsible for the phenotype in the coa^5J mouse was identified as an A-to-T substitution. This mutation creates a stop codon, fom a lysine codon at position 627 (p.K627*).
General note: Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. This allele was never studied in this context.