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Allele : Gnao1<em1Mvb> guanine nucleotide binding protein, alpha O; endonuclease-mediated mutation 1, Maryana V Bardina

Primary Identifier  MGI:7645676 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Gnao1
Strain of Origin  (C57BL/6 x CBA/Lac)F1 Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Gnao1<em1(GNAO1)IGB>,
  • Gnao1-GGA,
  • Gnao1-GGA,
  • Gnao1<em1(GNAO1)IGB>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele