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Allele : Kctd1<Mhdahst014> potassium channel tetramerisation domain containing 1; Martin Hrabe de Angelis Hst014

Primary Identifier  MGI:5910041 Allele Type  Chemically induced (ENU)
Attribute String  Dominant negative, Null/knockout Gene  Kctd1
Inheritance Mode  Dominant Strain of Origin  C3HeB/FeJ
Is Recombinase  false Is Wild Type  false
molecularNote  The molecular lesion responsible for the phenotype is a point mutation resulting in a T-to-A transversion at nucleotide 80 (ENSMUST00000025992.6, 265-amino-acid isoform), leading to an amino acid exchange from isoleucine to asparagine at position 27, thereby affecting the functional BTB domain of the protein. The mutation presumably causes a loss of function via a dominant-negative mechanism.
  • mutations:
  • Single point mutation
  • synonyms:
  • Kctd1<I27N>,
  • Kctd1<I27N>,
  • Kctd1I27N,
  • Kctd1I27N,
  • HST014,
  • HST014
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele