Elf4^em1Hdu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Elf4^em1Hdu
• Name: E74 like ETS transcription factor 4; endonuclease-mediated mutation 1, Hongqiang Du
• MGI ID: MGI:7408147
• Gene: Elf4 Location: ChrX:47499926-47552009 bp, - strand Genetic Position: ChrX, 25.67 cM, cytoband A3.2
• Alliance: Elf4^em1Hdu page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a TGG to CGC change resulting in a tryptophan to arginine substitution at amino acid 230 (W230R). This change corresponds to the W231R variant found in a pediatric patient with X-linked familial autoinflammatory syndrome. (J:328935)

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 Elf4 Mutation: 17 strains or lines available

References

• Original: J:328935 Sun G, et al., Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human. J Clin Immunol. 2022 May;42(4):798-810
• All: 1 reference(s)