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Hps3coa-5J
Spontaneous Allele Detail
Nomenclature
Symbol: Hps3coa-5J
Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 5 Jackson
MGI ID: MGI:1858033
Gene: Hps3  Location: Chr3:20050109-20089479 bp, - strand  Genetic Position: Chr3, 6.12 cM
Mutation
origin
Strain of Origin:  B10.A-H2a H2-T18a/SgSnJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe underlying mutation responsible for the phenotype in the coa5J mouse was identified as an A-to-T substitution. This mutation creates a stop codon, fom a lysine codon at position 627 (p.K627*). (J:72606)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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
Notes
Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. This allele was never studied in this context.
References
Original:  J:30547 Cook S, Remutation coa<5J>. Mouse Genome. 1995;93(4):1030
All:  2 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
11/16/2021
MGI 6.17
The Jackson Laboratory