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Allele : Hps5<ru2-2Btlr> HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2, 2 Bruce Beutler

Primary Identifier  MGI:3794862 Allele Type  Chemically induced (ENU)
Gene  Hps5 Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  This mutation, discovered among G3 progeny of an ENU-mutagenized mouse by their hypopigmented, light brown fur, corresponds to an A-to-T transversion at nucleotide position 2337 of the gene, in the 16th of 23 exons, replacing an arginine codon by a termination codon at position 680 (R680Ter).
  • mutations:
  • Single point mutation
  • synonyms:
  • dorian gray,
  • dorian gray
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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

3 Publication categories

Trail: Allele