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| Nomenclature |
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Symbol:
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Ryr2tm1Sgp
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Name:
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ryanodine receptor 2, cardiac;
targeted mutation 1, Silvia G Priori
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MGI ID: |
MGI:3641338 |
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Synonyms: |
Ryr2R4496C |
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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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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:109683
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129/Sv
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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: A targeting vector was used to introduce an R4496C mutation into exon 94 of the locus. LoxP sites were inserted to flank the exon. (J:109683)
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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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Notes |
ES cell line = TVB2.
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| References |
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Original: |
J:109683
Cerrone M et al.,
"Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor."
Circ Res 2005 May 27;96(10):e77-82
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All: |
9 reference(s)
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