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Allele : Sgca<tm1Isrd> sarcoglycan, alpha (dystrophin-associated glycoprotein); targeted mutation 1, Isabelle Richard

Primary Identifier  MGI:3784951 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Sgca
Transmission  Germline Strain of Origin  129S2/SvPas
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 3 was replaced with an exon 3 that contained a nucleotide substitution that resulted in the amino acid substitution of cysteine for histidine at position 77 (H77C), mimicking a mutation associated with limb-girdle muscular dystrophy (LGMD2D) in human. A floxed neo cassette was inserted downstream of exon 3 and was subsequently removed by germ-line, cre-mediated recombination.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Sgca<77C>,
  • Sgca<H77C>,
  • Sgca<77C>,
  • Sgca<H77C>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories