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Allele : Ryr1<em2Zor> ryanodine receptor 1, skeletal muscle; endonuclease-mediated mutation 2, Francesco Zorzato

Primary Identifier  MGI:7339045 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ryr1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Alanine codon 4330 (GCC) in exon 91 was changed to aspartic acid (GAC) (ENSMUSP00000137123:p.A4330D) using an sgRNA (targeting GAGCAGCGCGGCCACCGCCGTGG) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.A4329D mutation associated with congenital myopathy 1B (multiminicore disease (MmD)).
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • RyR1A4329D,
  • RyR1A4329D
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele