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| Nomenclature |
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Symbol:
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Ryr2tm1.1Clhh
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Name:
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ryanodine receptor 2, cardiac;
targeted mutation 1.1, Christopher Huang
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MGI ID: |
MGI:5432111 |
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Synonyms: |
RyR2P2328S, RyR2s |
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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:186379
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S/SvEv
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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: Exon 45 was replaced with one in which nucleotide substitutions (CCC to TCT) result in the amino acid substitution of serine for proline at 2328 (P2328S). A floxed neo cassette inserted downstream of exon 45 was removed by cre mediated recombination. (J:186379)
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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:186379
Goddard CA et al.,
"Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts."
Acta Physiol (Oxf) 2008 Oct;194(2):123-40
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All: |
2 reference(s)
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Analysis Tools
