在染色体1的v38位置,由ENU诱导的T到C的转换发生在72,339,029号碱基对,或者在GenBank的NC_000067基因组区域的31,613号碱基对。这个变异对应于NM_009533 mRNA序列中第1,309位的氨基酸,位于11个总外显子的第11个外显子。该变异导致Ku80蛋白第395位的酪氨酸(Y)被替换为 Histidine(H),即Y395H变异。(来源:J:274736)

Basic Information

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