Arhgef9^em1Frk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Arhgef9^em1Frk
• Name: CDC42 guanine nucleotide exchange factor 9; endonuclease-mediated mutation 1, Wayne Frankel
• MGI ID: MGI:8174718
• Synonyms: G55A
• Gene: Arhgef9 Location: ChrX:94092541-94240462 bp, - strand Genetic Position: ChrX, 41.85 cM
• Alliance: Arhgef9^em1Frk page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Dominant negative, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: This CRISPR/cas9-mediated GGA to GCA point substitution created a G55A amino acid substitution in the SH3 domain consistent with that found in a male patient with early infantile epileptic encephalopathy 8 (EIEE8). (J:364541)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Arhgef9 Mutation: 8 strains or lines available

References

• Original: J:364541 Wang W, et al., Impaired axon initial segment structure and function in a model of ARHGEF9 developmental and epileptic encephalopathy. Proc Natl Acad Sci U S A. 2024 Oct 15;121(42):e2400709121
• All: 1 reference(s)