Gfi1^em1Hlg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gfi1^em1Hlg
• Name: growth factor independent 1 transcription repressor; endonuclease-mediated mutation 1, H Leighton Grimes
• MGI ID: MGI:6512040
• Synonyms: GFI^R412X
• Gene: Gfi1 Location: Chr5:107864521-107873671 bp, - strand Genetic Position: Chr5, 52.23 cM
• Alliance: Gfi1^em1Hlg page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: The zinc finger nuclease induced mutation creates an R412X mutation in exon 6 resulting in a premature stop codon. The mutation is identified in patients with severe congenital neutropenia (SCN). (J:294099)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gfi1 Mutation: 31 strains or lines available

References

• Original: J:294099 Muench DE, et al., Mouse models of neutropenia reveal progenitor-stage-specific defects. Nature. 2020 Jun;582(7810):109-114
• All: 1 reference(s)