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Allele : Ank2<tm2.1Bnt> ankyrin 2, brain; targeted mutation 2.1, Vann Bennett

Primary Identifier  MGI:5646021 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ank2
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  An L1622I (CTG to ATC) mutation in exon 19 and a loxP site flanked neomycin resistance gene cassette were knocked into the gene. In humans, the mutation is involved with the setting of hereditary cardiac arrhythmia. Cre-mediated recombination removed the neo cassette. Western blot analysis confirmed reduced protein expression in the fat, liver, skeletal muscle, pancreatic beta cells, mouse embryonic fibroblasts and heart but not the brain.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Ank2<tm2.1(L1622I)Bnt>,
  • Ank2<tm2.1(L1622I)Bnt>,
  • Ank2<L1622I>,
  • Ank2<L1622I>
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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

4 Publication categories

Trail: Allele