Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: A study using a knock-in mouse model

Highlights • Mice with R420W mutation of RyR2 exhibit hypertrophy of lymphoid organs. • Phenotypic changes may imply existence of hereditary arrhythmia diseases. • Phenotypic changes may suggest the presence of the R420W mutation. • Sudden unexplained death cases with mutation may show such findings...

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Bibliographic Details
Published inLegal medicine (Tokyo, Japan) Vol. 16; no. 6; pp. 326 - 332
Main Authors Nishio, Hajime, Okudaira, Noriyuki, Matsushita, Kazufumi, Yoshimoto, Tomohiro, Sato, Takako, Suzuki, Koichi
Format Journal Article
LanguageEnglish
Published Ireland Elsevier Ireland Ltd 01.11.2014
Subjects
Animals
Arrhythmia
Autopsy
Cytokines - analysis
Death, Sudden, Cardiac - etiology
Disease Models, Animal
Enzyme-Linked Immunosorbent Assay
Flow Cytometry
Hypertrophy
Immunohistochemistry
Internal Medicine
Lymphatic System - pathology
Mice
Mice, Knockout
Mutation
Phenotype
Ryanodine Receptor Calcium Release Channel - genetics
Status thymicolymphaticus
Sudden death
Thymus
Arrhythmia
Status thymicolymphaticus
Autopsy
Sudden death
Thymus
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Summary:Highlights • Mice with R420W mutation of RyR2 exhibit hypertrophy of lymphoid organs. • Phenotypic changes may imply existence of hereditary arrhythmia diseases. • Phenotypic changes may suggest the presence of the R420W mutation. • Sudden unexplained death cases with mutation may show such findings at autopsy. • Mouse model resembles the previously termed “status thymicolymphaticus”.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1344-6223
1873-4162
DOI:10.1016/j.legalmed.2014.06.008