Gnao1^em1Mvb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gnao1^em1Mvb
• Name: guanine nucleotide binding protein, alpha O; endonuclease-mediated mutation 1, Maryana V Bardina
• MGI ID: MGI:7645676
• Synonyms: Gnao1^{em1(GNAO1)IGB}, Gnao1-GGA
• Gene: Gnao1 Location: Chr8:94537213-94696016 bp, + strand Genetic Position: Chr8, 45.94 cM
• Alliance: Gnao1^em1Mvb page

Mutation origin

• Strain of Origin: (C57BL/6 x CBA/Lac)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glycine codon 203 (GGG) in exon 6 was changed to GGA (c.609G>A) using an sgRNA (targeting GCTTTCCCTGACTCCCTGC) and an ssODN template with CRISPR/Cas9 technology. The mutation makes the codon identical to the human G203 codon, a variant in which (SNP rs587777057) is associated with epileptic seizures and movement disorder. Transcript and protein expression are not affected by the mutation. (J:347823)

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 Gnao1 Mutation: 29 strains or lines available

References

• Original: J:347823 Polikarpova AV, et al., CRISPR/Cas9-generated mouse model with humanizing single-base substitution in the Gnao1 for safety studies of RNA therapeutics. Front Genome Ed. 2023;5:1034720
• All: 1 reference(s)