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Allele : Mib1<em2Jlp> MIB E3 ubiquitin protein ligase 1; endonuclease-mediated mutation 2, Jose de la Pompa

Primary Identifier  MGI:7543448 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Mib1
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  Valine codon 943 (GTT) in exon 20 was changed to phenylalanine (TTT) (p.V943F) using an sgRNA (targeting CTGCACATCTGCGTTAACAT) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the same human mutation (c.2827G>T) found in some left ventricular noncompaction (LVNC) patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Mib1<V943F>,
  • Mib1<V943F>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele