编码肽的第七个跨膜域中,Threonine的355位(ACG)被替换为 Methionine(ATG),形成p.T355M变异。同时,一个loxP序列引导的诺卡因抗性基因座被插入到了第7个内含子。这个变异与人类的p.T356M变异相关联,后者与自闭症谱系障碍(ASD)有关(J:289651)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Single point
--
1
4
1

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

References Literature

Title
PMID
Journal
Year
IF
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