Elane^tm1Link
Targeted Allele Detail

Summary

• Symbol: Elane^tm1Link
• Name: elastase, neutrophil expressed; targeted mutation 1, David C Link
• MGI ID: MGI:3785264
• Synonyms: Ela2^V72M
• Gene: Elane Location: Chr10:79722146-79724050 bp, + strand Genetic Position: Chr10, 39.72 cM
• Alliance: Elane^tm1Link page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:131496
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: 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. (J:131496)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Elane Mutation: 21 strains or lines available

References

• Original: J:131496 Grenda DS, et al., Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis. Blood. 2002 Nov 1;100(9):3221-8
• All: 1 reference(s)