Hps3<coa> Spontaneous Allele Detail MGI Mouse (MGI:1856707)

Hps3^coa
Spontaneous Allele Detail

Summary

Symbol:	Hps3^coa
Name:	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa
MGI ID:	MGI:1856707
Synonyms:	co, coa
Gene:	Hps3 Location: Chr3:20050109-20089478 bp, - strand Genetic Position: Chr3, 6.12 cM
Alliance:	Hps3^coa page

Hps6^ru-2J/ Hps6^ru-2J and Hps3^coa/ Hps3^coa

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 details: 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. (J:72606)
Inheritance:		Recessive

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	54 strains or lines available

References

Original:	J:14018 Sweet HO, et al., Cocoa (coa). Mouse News Lett. 1985;73:18
All:	15 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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