Gnao1^em2Rneu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gnao1^em2Rneu
• Name: guanine nucleotide binding protein, alpha O; endonuclease-mediated mutation 2, Richard R Neubig
• MGI ID: MGI:6513138
• Synonyms: Gnao1^R209H
• Gene: Gnao1 Location: Chr8:94536781-94696016 bp, + strand Genetic Position: Chr8, 45.94 cM
• Alliance: Gnao1^em2Rneu page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change resulting in an arginine to histidine substitution at amino acid 209 (R209H) in exon 6. Western blot analysis shows no difference in levels of protein expression in heterozygotes compared with wild-type mice. The R209H mutations is one of the most common mutations found in GNAO1 encephalopathies. (J:303229)

Disease models

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:303229 Larrivee CL, et al., Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone. J Pharmacol Exp Ther. 2020 Apr;373(1):24-33
• All: 1 reference(s)