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Allele : Tg(SMN1-SMN2*)16Cll transgene insertion 16, Christian L Lorson

Primary Identifier  MGI:5490785 Allele Type  Transgenic
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tg(SMN1-SMN2*)16Cll
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  This transgene consists of 3.4 kb promoter and 5'-untranslated region from the human SMN1 gene, the complete coding sequence of human SMN2 cDNA containing the silent C to T transition in exon 7 that results in the alternatively spliced transcript without exon 7 (SMNdelta7) and a TAG to TAT alteration in the first stop codon in exon 8 (change from a stop codon to a tyrosine), and the 3'-UTR of SMN1. The TAG to TAT change in exon 8 allows for translational stop codon read-through of the SMNdelta7 and generates an extended SMN2 protein. Thirteen lines were produced.
  • mutations:
  • Insertion
  • synonyms:
  • SMN<RT>,
  • SMN<RT>
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1 Feature

Genome

1 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories