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Allele : Ryr1<tm1.1Mfgo> ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, Michael Goldberg
Primary Identifier  MGI:6314276 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ryr1
Transmission  Germline Strain of Origin  C57BL/6NTac
Is Recombinase  false Is Wild Type  false
molecularNote  The targeting vector contains as Thr4706Met point mutation (ACG to ATG) in exon 96 followed by an FRT-flanked neomycin cassette. Flp-mediated recombination removed the FRT-flanked neo cassette. The T4706M mutation was identified in a patient with RYR1 related myopathy.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories





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