Foxi3^em3Akg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Foxi3^em3Akg
• Name: forkhead box I3; endonuclease-mediated mutation 3, Andrew K Groves
• MGI ID: MGI:7493424
• Synonyms: Foxi3^F218L
• Gene: Foxi3 Location: Chr6:70933590-70938050 bp, + strand Genetic Position: Chr6, 32.14 cM
• Alliance: Foxi3^em3Akg 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 C to G change resulting in a phenylalanine to leucine substitution at amino acid 218 (p.F218L). This is equivalent to the human p.F234L pathogenic variant identified in a Pakistani family with Goldenhar syndrome (craniofacial microsomia). (J:336768)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Foxi3 Mutation: 22 strains or lines available

References

• Original: J:336768 Mao K, et al., FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 Apr 11;14(1):2026
• All: 1 reference(s)