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Allele : Dhtkd1<em1Hpr> dehydrogenase E1 and transketolase domain containing 1; endonuclease-mediated mutation 1, Holger Prokisch

Primary Identifier  MGI:6268324 Allele Type  Endonuclease-mediated
Attribute String  Null/knockout Gene  Dhtkd1
Strain of Origin  (FVB/N x C57BL/6N)F1 Is Recombinase  false
Is Wild Type  false
molecularNote  TALEN technology generated a 19 bp deletion (c.1258_127del) in exon 7. This deletion is predicted to result in a premature stop codon at amino acid 431 and resembles the patient variant p.Arg410*. Western blot analysis confirmed absence of protein in homozygotes.
  • mutations:
  • Intragenic deletion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

3 Publication categories

Trail: Allele