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中文
Exon 1被替换为带有K228E氨基酸替换(赖氨酸到天冬氨酸)的Exon 1，以及一个含loxP切割位点的诺卡因选择标记。通过Cre介导的重组移除了这个选择标记。这种突变在一个患有自闭症谱系障碍的男性中被发现。TBR1蛋白在杂合子和纯合子的大脑中的整体水平分别增加了约2倍和6倍。(来源：J:281878)
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
