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Allele : Hps5<ru2-J> HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2 Jackson

Primary Identifier  MGI:1856147 Allele Type  Spontaneous
Gene  Hps5 Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  This spontaneous mutation was shown to be an allele of Hpsru-2 by complementation testing, and thus an allele of Hps5ru2. Subsequent sequence analysis identified the replacement of G with TT in codon 757, putatively resulting in a frameshift mutation that precludes the translation of 311 carboxy terminal amino acids. Northern blot analysis indicated that the mutation did not affect the expression pattern of the gene.
  • mutations:
  • Insertion
  • synonyms:
  • ru2<J>,
  • ru-2<J>,
  • ru-2J,
  • ru-2<J>,
  • ruby-type,
  • ru2<J>,
  • ru-2J,
  • ruby-type
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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

8 Publication categories

Trail: Allele