Ryr2tm2Hhv
Targeted Allele Detail
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Symbol: |
Ryr2tm2Hhv |
Name: |
ryanodine receptor 2, cardiac; targeted mutation 2, Hector H Valdivia |
MGI ID: |
MGI:5583980 |
Synonyms: |
RyR2-V2475F |
Gene: |
Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
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Alliance: |
Ryr2tm2Hhv page
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Germline Transmission: |
Earliest citation of germline transmission:
J:212870
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129/Sv
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Allele Type: |
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Targeted (Humanized sequence, Null/knockout) |
Mutations: |
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Insertion, Nucleotide substitutions
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Mutation details: A modified exon 48 containing a valine to phenylalanine (V2475F) mutation and a translationally silent Mlu-I restriction site replaced the endogenous exon. A loxP-flanked neomycin cassette was also inserted downstream of the modified exon and was subsequently removed by mating founder mice with EIIa-cre transgenic mice.
(J:212870)
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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Ryr2 Mutation: |
325 strains or lines available
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Original: |
J:212870 Loaiza R, et al., Heterogeneity of ryanodine receptor dysfunction in a mouse model of catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2013 Jan 18;112(2):298-308 |
All: |
1 reference(s) |
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