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Sgcbem1Isrd
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Sgcbem1Isrd
Name: sarcoglycan, beta (dystrophin-associated glycoprotein); endonuclease-mediated mutation 1, Isabelle Richard
MGI ID: MGI:6119737
Synonyms: SgcbTm1GNT
Gene: Sgcb  Location: Chr5:73632749-73647731 bp, - strand  Genetic Position: Chr5, 38.89 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsA 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 Sgcbem1Isrd allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  6 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/05/2019
MGI 6.14
The Jackson Laboratory