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Allele : Elane<tm1Link> elastase, neutrophil expressed; targeted mutation 1, David C Link

Primary Identifier  MGI:3785264 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Elane
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 3 was replaced with an exon 3 containing the transition 298G>A that resulted in an amino acid substitution of methionine for valine at position 72 (V72M). A floxed neo was also inserted downstream of exon 5 and subsequently removed by cre-mediated recoombination. This mutation was originally identified in two unrelated patients with severe cognital neutropenia, one of whom had acute myeloid leukemia.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Ela2<V72M>,
  • Ela2<V72M>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories