Foxg1^em1Skyl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Foxg1^em1Skyl
• Name: forkhead box G1; endonuclease-mediated mutation 1, Soo-Kyung Lee
• MGI ID: MGI:8220248
• Synonyms: Foxg1^Q84Pfs
• Gene: Foxg1 Location: Chr12:49429666-49433650 bp, + strand Genetic Position: Chr12, 21.78 cM
• Alliance: Foxg1^em1Skyl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Insertion
• Mutation details: CRISPR-targeting generated knock-in mice carrying an extra cytosine at position 250 (c.250dupC) resulting in a glutamine to proline substitution at residue 84 that results in a frame shift (p.Q84Pfs*31) which is equivalent to human c.256dupC (p.Q86Pfs*35). This is one of the predominant variations seen in FOXG1 syndrome. Immunostaining analysis shows that full-length protein levels are decreased in heterozygotes and that the truncated form resulting from the frameshift is expressed. (J:367353)

Expression

In Structures Affected by this Mutation:

8 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 Foxg1 Mutation: 30 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: FOXG1 syndrome (J:367353).

References

• Original: J:367353 Jeon S, et al., The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome. Nat Commun. 2025 May 22;16(1):4760
• All: 1 reference(s)