B6;B10-Hps3^coa/JLlp

Stock number: 006934
Research areas: Dermatology Research, Hematological Research

Description

This strain is extinct, please refer to Stock No. 001025

Development

The cocoa mutation arose spontaneously on the C57BL/10J background at The Jackson Laboratory in 1978 when that inbred was at generation F136. This mutation was maintained through sibling inbreeding and in 1985 homozygous males at generation F136+6 were bred to C57BL/6J females to generate embryos for cryopreservation. In 2000 embryos were thawed and the line was subsequently maintained by intercrossing.

Allele

Symbol: Hps3^coa
Name: cocoa
MGI accession ID: MGI:1856707
Generation method: Spontaneous
Synonyms: co; coa
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: C57BL/10J
Molecular note: The underlying mutation responsible for the phenotype in the cocoa mouse was identified as an A-to-T substitution in the intron 14-exon 15 splice acceptor site, changing it from TAG to TTG. With the endogenous acceptor eleminated, a cryptic splice site is utilized within exon 15, which results in a frameshift and premature termination. Northern analysis demonstrated qualitative and quantitative differences in mRNA between wild-type and homozygous mutant animals.