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Allele : Tg(282M13-Ank*G389R)1Kng transgene insertion 1, David M Kingsley

Primary Identifier  MGI:3715537 Allele Type  Transgenic
Attribute String  Inserted expressed sequence Gene  Tg(282M13-Ank*G389R)1Kng
Strain of Origin  FVB/N or (C57BL/6 x CBA)F1/J Is Recombinase  false
Is Wild Type  false
description  Transgene was inserted into the nuclei of fertilized eggs from FVB/N or (C57BL/6 x CBA)F1/J mice.
molecularNote  A point mutation was made in the Ank gene contained within Tg(282M13)1Kng converting a glycine to a arginine at amino acid position 389. This mutation is commonly found in craniometaphyseal dysplasia (CMD) patients and has little to no PPi-transport activity in vitro.
  • mutations:
  • Insertion
  • synonyms:
  • BAC-Ank<G389R>,
  • BAC-Ank<G389R>,
  • Ank<G389R>,
  • Ank<G389R>
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele