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Allele : Hps5<ru2-4Btlr> HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2 4 Bruce Beutler

Primary Identifier  MGI:6114045 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Hps5
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced C to T transition at base pair 46,769,351 (v38) on chromosome 7, or base pair 26,714 in the GenBank genomic region NC_000073. The mutation corresponds to residue 2,972 in the mRNA sequence NM_001005248 within exon 17 of 23 total exons. The mutation results in substitution of glutamine (Q) 832 for a premature stop codon (Q832*) in isoform 1 or Q798* in isoform 2 of the protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • smoky,
  • smoky
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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