Gnao1^em2Katv
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gnao1^em2Katv
• Name: guanine nucleotide binding protein, alpha O; endonuclease-mediated mutation 2, Vladimir L Katanaev
• MGI ID: MGI:7384871
• Synonyms: C215Y
• Gene: Gnao1 Location: Chr8:94536781-94696016 bp, + strand Genetic Position: Chr8, 45.94 cM
• Alliance: Gnao1^em2Katv page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 644 in the cDNA resulting in a cysteine to tyrosine mutation at amino acid 215. (J:319706)

Expression

In Mice Carrying this Mutation:

18 assay results

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:319706 Silachev D, et al., Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation. Acta Neuropathol Commun. 2022 Jan 28;10(1):9
• All: 1 reference(s)