Elane^tm1Link

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Species

Mus musculus

Symbol

Elane^tm1Link

Category

allele

Allele of gene

Elane

Transgenic Constructs

None

Synonyms

• Ela2^V72M

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations