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Allele : Rbm20<em1Hnis> RNA binding motif protein 20; endonuclease-mediated mutation 1, Hajime Nishio

Primary Identifier  MGI:7469911 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Rbm20
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a T to C change at position 1613 (c.T1613C) resulting in an isoleucine to threonine substitution at amino acid 536 (p.I538T). This corresponds to the human c.T1607C (p.I536T) variant that was identified in two patients with sudden death without apparent dilated cardiomyopathy.
  • mutations:
  • Single point mutation
  • synonyms:
  • Rbm20<I538T>,
  • Rbm20<I538T>
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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

2 Publication categories

Trail: Allele