Foxi3^em1Ybz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Foxi3^em1Ybz
• Name: forkhead box I3; endonuclease-mediated mutation 1, Yong-Biao Zhang
• MGI ID: MGI:7493416
• Synonyms: Foxi3^{R220W-R222Q-R224H}
• Gene: Foxi3 Location: Chr6:70933590-70938050 bp, + strand Genetic Position: Chr6, 32.14 cM
• Alliance: Foxi3^em1Ybz page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology using gRNA TCGGAAGCGAAGGCGCCGG-CGG was used to generate mice carrying three variants: an arginine to tryptophan at residue 220 (codon from CGG to TGG), an arginine to glutamine at residue 222 (codon from CGA to CAA), and an arginine to histidine at residue 224 (codon from CGC to CAC) (p.R220W, p.R222Q, and p.R224H). These are orthologous to p.R236W, p.R238Q, and p.R240H pathogenic variants identified in Chinese families with Goldenhar syndrome (craniofacial microsomia). (J:336768)

Disease models

Expression

In Structures Affected by this Mutation:

14 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)