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Allele : Ryr1<em1Jjd> ryanodine receptor 1, skeletal muscle; endonuclease-mediated mutation 1, James Dowling

Primary Identifier  MGI:6437882 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ryr1
Strain of Origin  C57BL/6NCrl Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 endonuclease-mediated genome editing was used to insert a T4709M missense mutation in exon 96 of the gene. The mutation is predicted to result in an amino acid substitution at position 4709 altering threonine to methionine (c.14117 C to T). The mutation is orthologous to the human variant T4706M. Sequencing of N1 mice revealed only the c.14117 CtoT, p.T4706M was incorporated, and not the silent c.14100 C to T change.
  • mutations:
  • Single point mutation
  • synonyms:
  • Ryr1<TM>,
  • Ryr1<TM>
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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