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Allele : Copg1<em1Geha> coatomer protein complex, subunit gamma 1; endonuclease-mediated mutation 1, Raif Geha

Primary Identifier  MGI:7611910 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Copg1
Is Recombinase  false Is Wild Type  false
molecularNote  Lysine codon 652 (AAA) in exon 19 was changed to glutamic acid (GAA) (c.1954A>G:p.K652E) using an sgRNA and an ssODN template with CRISPR/Cas9. The mutation, in the appendage domain of the encoded peptide, is the equivalent of the same human mutation associated with combined immunodeficiency (CID).
  • mutations:
  • Single point mutation
  • synonyms:
  • Copg1<K652E>,
  • Copg1<K652E>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories