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中文
在人类中，R1788W(由C变为T)的基因外22号染色体突变与遗传性心脏心律失常有关。通过Cre介导的重组，去除了选择性载体诺卡因。 Western blot结果显示，这种突变在脂肪、肝脏、骨骼肌、胰岛β细胞、小鼠胚胎成纤维细胞和心脏中蛋白表达降低，但不包括大脑。(来源：J:222913)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
