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Allele : Hps5<ru2-hz> HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; haze

Primary Identifier  MGI:1856145 Allele Type  Spontaneous
Gene  Hps5 Inheritance Mode  Recessive
Strain of Origin  DBA/2J Is Recombinase  false
Is Wild Type  false
description 

Shown to be an allele of the maroon mutation and later both were shown to be alleles of ru2.

molecularNote  This allele was initially shown to be allelic to Hps5ru2 and Hps5ru2-mr by complementation testing. The insertion of CCGG in codon 900 was identified by sequence analysis and putatively results in a frameshift mutation that precludes the translation of 118 carboxy terminal amino acids.
  • mutations:
  • Insertion
  • synonyms:
  • ru2<hz>,
  • ru2<hz>,
  • hz,
  • ru-2<hz>,
  • ru-2<hz>,
  • hz
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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

7 Publication categories

Trail: Allele