This strain is extinct, please refer to Stock No. 001025
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Hps3 | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
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 Name | cocoa |
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Allele Type | Spontaneous |
Allele Synonym(s) | co; coa |
Gene Symbol and Name | Hps3, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
Gene Synonym(s) | |
Strain of Origin | C57BL/10J |
Chromosome | 3 |
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. |
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