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Allele : Ank2<tm1Bnt> ankyrin 2, brain; targeted mutation 1, Vann Bennett

Primary Identifier  MGI:2179754 Allele Type  Targeted
Attribute String  Modified isoform(s) Gene  Ank2
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Sinoatrial (SAN) disease (J:163867)
molecularNote  A neomycin resistance gene, an in-frame HA epitope and a stop codon were inserted into exon 22, which encodes the spectrin binding domain. Northern blot analysis on RNA derived from homozygous brains demonstrated that no detectable transcript was expressed from this allele. Western blot analysis on homogenates of homozygous brain confirmed that no encoded protein was present. Nonsense-mediated decay leads to a reduction in the 220-kDa and giant Ank2 polypeptides.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • ABe22*,
  • AnkyrinB -,
  • ABe22*,
  • AnkyrinB -
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

38 Publication categories