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Allele : Gnb1<em1Dgold> guanine nucleotide binding protein (G protein), beta 1; endonuclease-mediated mutation 1, David B Goldstein

Primary Identifier  MGI:7620469 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Gnb1
Inheritance Mode  Dominant Strain of Origin  C57BL/6NCrl
Is Recombinase  false Is Wild Type  false
molecularNote  Lysine codon 78 (AAA) in exon 6 was changed to arginine (AGA) (NM_008142:c.233A>G:p.K78R) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with neurodevelopmental disorder with global developmental delay and epilepsy (autosomal dominant intellectual developmental disorder 42). Protein expression from this allele is similar to wildtype.
  • mutations:
  • Single point mutation
  • synonyms:
  • Gnb1<K78R>,
  • Gnb1<K78R>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele