Hps3<coa-5J> Spontaneous Allele Detail MGI Mouse (MGI:1858033)

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Hps3^coa-5J
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Find Mice (IMSR) | Notes | References

Summary

Symbol:	Hps3^coa-5J
Name:	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 5 Jackson
MGI ID:	MGI:1858033
Gene:	Hps3 Location: Chr3:20050109-20089478 bp, - strand Genetic Position: Chr3, 6.12 cM
Alliance:	Hps3^coa-5J page

Mutation
origin

Strain of Origin:

B10.A-H2^a H2-T18^a/SgSnJ

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: The underlying mutation responsible for the phenotype in the coa^5J 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

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

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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