|
|
| Nomenclature |
|
Symbol:
|
Ryr2tm1.1Maya
|
|
Name:
|
ryanodine receptor 2, cardiac;
targeted mutation 1.1, Masafumi Yano
|
|
MGI ID: |
MGI:4442645 |
|
Synonyms: |
RyR2 R2474S |
|
Gene:
|
Ryr2
Location:
Chr13:11553103-12106945 bp, - strand
Genetic Position: Chr13,
4.38 cM, cytoband A1-A2
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:159451
|
|
Parent Cell Line:
| CMTI-2 (ES Cell) |
|
Strain of Origin:
|
C57BL/6J
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutations: | |
Insertion, Nucleotide substitutions |
| |
|
Mutation details: Exon 49 was replaced with one in which nucleotide substitutions result in the amino acid substitution of serine for arginine at position 2474 (R2474). An upstream floxed neo cassette was removed by cre mediated recombination leaving a single loxP site. (J:159451)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
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 |
|
Carrying any Ryr2 Mutation:
|
31 strains or lines available |
|
| References |
|
Original: |
J:159451
Uchinoumi H et al.,
"Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor."
Circ Res 2010 Apr 30;106(8):1413-24
|
|
All: |
2 reference(s)
|
|
Analysis Tools
