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Allele : Ercc6l2<em2Mengf> excision repair cross-complementing rodent repair deficiency, complementation group 6 like 2; endonuclease-mediated mutation 2, Feilong Meng

Primary Identifier  MGI:6792078 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ercc6l2
Is Recombinase  false Is Wild Type  false
molecularNote  Aspartic acid codon 270 (GAT) in exon 5 was targeted for change to asparagine (AAT)(p.D270N) with an sgRNA (targeting CTTCATAACTTCTGTAACTC) and an ssODN template using CRISPR/Cas9 technology. This mutation in the DEAH-box helicase catalytic site of the encoded peptide mimics one that is found in some inherited bone marrow failure (BMF) patients and renders the enzyme catalytic-dead.
  • mutations:
  • Single point mutation
  • synonyms:
  • Ercc6l2<D270N>,
  • Ercc6l2<D270N>
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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

3 Publication categories

Trail: Allele