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| Nomenclature |
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Symbol:
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Ryr1tm2.1Alle
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Name:
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ryanodine receptor 1, skeletal muscle;
targeted mutation 2.1, Paul D Allen
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MGI ID: |
MGI:4887389 |
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Synonyms: |
RyR1-R163C |
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Gene:
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Ryr1
Location:
Chr7:29003340-29125151 bp, - strand
Genetic Position: Chr7,
16.94 cM, cytoband A2-B3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:168222
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: Four nucleotides in exon 6 were modified (CgAgttggGgaT to TgCgttggAgaC) to encode an Arginine to Cysteine change of codon 163 as well as to generate a new BsmBI restriction site. In addition, a floxed neomycin cytosine deaminase cassette was inserted in the EagI site in intron 6. Germline deletion of the selection cassette was subsequently accomplished in the germ line by breeding to Alp1tm1(cre)Nagy mice. (J:168222)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ryr1 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:168222
Yang T et al.,
"Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse."
Anesthesiology 2006 Dec;105(6):1164-75
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All: |
5 reference(s)
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Analysis Tools
