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Allele : Sgcd<tm1Ojml> sarcoglycan, delta (dystrophin-associated glycoprotein); targeted mutation 1, Oliver J Muller
Primary Identifier  MGI:5792156 Allele Type  Targeted
Attribute String  Not Specified Gene  Sgcd
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 6 was replaced with a modified exon in which a T to G point mutation results in the amino acid substitution of alanine for serine at position 151 (S151A). This amino acid substitution is reported in patients with autosomal dominant dilated cardiomyopathy. A neomycin resistance cassette was inserted downstream of the modified exon.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Sgcd<S151A>,
  • Sgcd<S151A>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele




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