Gnao1^em1Rneu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gnao1^em1Rneu
• Name: guanine nucleotide binding protein, alpha O; endonuclease-mediated mutation 1, Richard R Neubig
• MGI ID: MGI:6295353
• Synonyms: Gnao1^G203R
• Gene: Gnao1 Location: Chr8:94537213-94696016 bp, + strand Genetic Position: Chr8, 45.94 cM
• Alliance: Gnao1^em1Rneu page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s), Null/knockout)
• Mutations: Not Applicable, Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a GGG to CGC change in exon 6 resulting in a glycine to arginine gain of function mutation at amino acid 203. Subsequent analysis revealed that an unexpected mutation occurred that changes two bases 13 and 14 bp upstream of the designed G203R mutation. This converts the AGG at the splice acceptor site on exon 6 to an AAA that does not splice correctly. RT-PCR analysis and sequencing showed that there was virtually no correctly spliced mutant Gnao1 RNA that contained the G203R mutant allele. (J:271137, J:353180)

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:271137 Feng H, et al., Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes. PLoS One. 2019;14(1):e0211066
• All: 2 reference(s)