Point mutations were introduced into codons 12, 19, 26, and 33 of exon 1 alpha, converting essential leucine zipper leucine/isoleucine residues into alanines. In addition a self-excising protamine-cre neo cassette was introduced into the intron after exon 1 alpha leaving behind a single loxp site. Immunoblot analysis of homozygous blood vessels detected expression of only the mutant protein. Pull down assay analysis confirmed the disruption of the interaction of the mutant protein with Mprip (J:134634)
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
129S/SvEv-Gpi1c
Targeted
Nucleotide substitutions
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1
3
4

表型特征

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
观察到的表型
N: 正常表型
(#): 上标括号内为相关疾病数量
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