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Allele : Nkx2-5<tm1.1Burg> NK2 homeobox 5; targeted mutation 1.1, Patrick G Burgon

Primary Identifier  MGI:6286225 Allele Type  Targeted
Attribute String  Epitope tag, Humanized sequence Gene  Nkx2-5
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 2 was replaced with one containing a CGC to TGC non-synonymous substitution resulting in an arginine to cysteine change at amino acid 141 (R141C), an frt-loxP-neo-frt-loxP cassette was inserted upstream of exon 2, and a flag tag was inserted at the ATG of exon 1. Flp-mediated recombination removed the neo selection cassette. This mutation is identified in patients with congenital heart defects.
  • mutations:
  • Single point mutation
  • synonyms:
  • Nkx2.5<R141C>,
  • Nkx2.5<R141C>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories

Trail: Allele