Sgcb^em1Isrd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sgcb^em1Isrd
• Name: sarcoglycan, beta (dystrophin-associated glycoprotein); endonuclease-mediated mutation 1, Isabelle Richard
• MGI ID: MGI:6119737
• Synonyms: Sgcb^Tm1GNT
• Gene: Sgcb Location: Chr5:73790092-73805080 bp, - strand Genetic Position: Chr5, 38.89 cM
• Alliance: Sgcb^em1Isrd page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

Allele Type: Endonuclease-mediated (Humanized sequence) Mutation: Nucleotide substitutions Mutation details: 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. (J:257027)

Generation of the Sgcb^em1Isrd allele

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 Sgcb Mutation: 22 strains or lines available

References

• Original: J:257027 Henriques SF, et al., Different outcome of sarcoglycan missense mutation between human and mouse. PLoS One. 2018;13(1):e0191274
• All: 1 reference(s)