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Allele : Hps3<coa-5J> HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 5 Jackson

Primary Identifier  MGI:1858033 Allele Type  Spontaneous
Gene  Hps3 Inheritance Mode  Recessive
Strain of Origin  B10.A-H2<a> H2-T18<a>/SgSnJ Is Recombinase  false
Is Wild Type  false
description  Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. This allele was never studied in this context.
molecularNote  The 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*).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories