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Allele : Acd<em1Cek> adrenocortical dysplasia; endonuclease-mediated mutation 1, Catherine Keegan

Primary Identifier  MGI:6864320 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Acd
Strain of Origin  (C57BL/6J x SJL/J)F2 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 endonuclease-mediated genome editing is used to delete a lysine (K82delta, AAG) and create a silent Kpnl restriction site in exon 3. The mutation is in the TEL patch of Acd (also known as TPP1). The mutation is orthologous to the human K170delta mutation identified in dyskeratosis congenita patients.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • TPP1 K82delta,
  • TPP1 K82delta
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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

2 Publication categories

Trail: Allele