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Allele : Sgcb<em1Isrd> sarcoglycan, beta (dystrophin-associated glycoprotein); endonuclease-mediated mutation 1, Isabelle Richard

Primary Identifier  MGI:6119737 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Sgcb
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  A homologous recombination event was induced using CRISPR/Cas9 based-cleavage at the mutation site and a homologous donor plasmid bearing an ACC codon to AGG change at position 458/459 resulting in a threonine to arginine at amino acid 153 (T153R) in exon 4 of the Sgcb gene and a self-excision LoxP-flanked neomycin resistance cassette. This mutation recapitulates a human missense mutation of threonine to arginine at position 151 in patients with sarcoglycanopathies.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Sgcb<Tm1GNT>,
  • Sgcb<Tm1GNT>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

3 Publication categories

Trail: Allele