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| Nomenclature |
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Symbol:
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Ryr2tm1Slh
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Name:
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ryanodine receptor 2, cardiac;
targeted mutation 1, Susan L Hamilton
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MGI ID: |
MGI:3665257 |
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Synonyms: |
Ryr2R176Q |
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Gene:
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Ryr2
Location:
Chr13:11553103-12106945 bp, - strand
Genetic Position: Chr13,
4.38 cM, cytoband A1-A2
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Ryr2tm1Slh/Ryr+ MRI heart images
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:111780
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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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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: The R176Q mutation, along with a new RsrII restriction site, was introduced into exon 8. A cassette containing a loxP-flanked NeoR gene expressed from the phosphoglycerate kinase promoter (PGK-NeoR) and a TetR gene was cloned in the unique BlpI site from intron 8. The loxP-flanked neomycin selection cassette was removed by Cre-mediated recombination in the final allele. (J:111780)
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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 Ryr2 Mutation:
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31 strains or lines available |
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| References |
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Original: |
J:111780
Kannankeril PJ et al.,
"Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy."
Proc Natl Acad Sci U S A 2006 Aug 8;103(32):12179-84
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All: |
3 reference(s)
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Analysis Tools
