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| Nomenclature |
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Symbol:
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Ryr1tm1Slh
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Name:
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ryanodine receptor 1, skeletal muscle;
targeted mutation 1, Susan L Hamilton
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MGI ID: |
MGI:3619253 |
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Synonyms: |
Ryr1Y522Sneo |
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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:105738
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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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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A targeting vector was designed to insert a Y522S mutation into exon 14. (J:105738)
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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:105738
Chelu MG et al.,
"Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse."
FASEB J 2006 Feb;20(2):329-30
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All: |
6 reference(s)
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Analysis Tools
