Allele/Variant

Sgcbem1Isrd

Species
Mus musculus
Symbol
Sgcbem1Isrd
Category
allele
Allele of gene
Sgcb
Transgenic Constructs
None
Synonyms
  • SgcbTm1GNT
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations