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Allele : Tmem43<em1Chen> transmembrane protein 43; endonuclease-mediated mutation 1, Ju Chen

Primary Identifier  MGI:6358294 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tmem43
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Using CRISPR/Cas9 with a donor oligonucleotide, a double substitution was introduced (CC>TA) to change serine codon 358 (TCC) to a leucine codon (TTA) (p.Ser358Leu). This mutation mimics the mutation seen in human arrhythmogenic right ventricular cardiomyopathy (ARVC) patients.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Luma S358L KI,
  • Luma S358L KI
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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

3 Publication categories

Trail: Allele