Phosphorylation of the serine amino acid at 2808 modifies the activity of this gene product. A modified exon 55 containing a serine to alanine (S2808A) 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. Mutant protein expression was confirmed in homozygote cardiomycotes by detection of protein with an Ryr2-specific antibody and a lack of signal with the phospho-specific RyR2-pS2808 antibody. (J:141342)
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基础信息

模型ID
品系来源
等位基因类型
突变
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参考文献
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion, Nucleotide substitutions
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1
8
5

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标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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N: 正常表型
(#): 上标括号内为相关疾病数量
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