这种突变是在通过对一只经ENU诱变的雄性小鼠G3代后代进行发育和/或功能异常的CD8+ T细胞筛选中发现的。它涉及基因(Genbank Accession NM_175362.1)第1791位的A到T转换,预测会导致1159个氨基酸蛋白质(第525位的Leucine,L525)被替换为Glutamine(arginine)。在脾脏和淋巴结的突变等位基因中,没有检测到CARD11蛋白,而胸腺表达也有所减少。(来源:J:139069)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
7
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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