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Hps3coa
Spontaneous Allele Detail
Nomenclature
Symbol: Hps3coa
Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa
MGI ID: MGI:1856707
Synonyms: co, coa
Gene: Hps3  Location: Chr3:19995945-20035315 bp, - strand  Genetic Position: Chr3, 6.12 cM
Hps6ru-2J/ Hps6ru-2J and Hps3coa/ Hps3coa

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/10J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe 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. (J:72606)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hps3 Mutation:  36 strains or lines available
References
Original:  J:14018 Sweet HO, et al., Cocoa (coa). Mouse News Lett. 1985;73:18
All:  12 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/04/2020
MGI 6.15
The Jackson Laboratory