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Spontaneous Allele Detail
Symbol: Hps3coa
Name: Hermansky-Pudlak syndrome 3 homolog (human); 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.

Strain of Origin:  C57BL/10J
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 3' splice site of the gene. A cryptic splice site is utilized within exon 15, which results in a frameshift. Northern analysis demonstrated qualitative and quantitative differences in mRNA between wild-type and homozygous mutant animals. (J:72606)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
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:  9 strains or lines available
Original:  J:14018 Sweet HO, et al., Cocoa (coa). Mouse News Lett. 1985;73:18
All:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.21
The Jackson Laboratory