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Allele : Hps3<coa-3J> HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 3 Jackson

Primary Identifier  MGI:1856708 Allele Type  Spontaneous
Gene  Hps3 Inheritance Mode  Recessive
Strain of Origin  B10.BR/SgSnJ-H2<k2> Fas<lpr> 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 coa3J mouse was identified as a 22 bp deletion between codons 474 and 481, which results in a frameshift.
  • mutations:
  • Intragenic deletion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele