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中文
在16号染色体的v38(15,717,801基对)或NC_000082的GenBank基因组区域，由ENU诱导的T到A的转换。这个变异对应于NM_011159 mRNA序列中第5,047位的氨基酸，位于第38个外显子的86个总外显子中。该变异导致DNA-PKCS蛋白中第1,675位的亮氨酸替换为谷氨酰胺(L1675Q)。(来源：J:272520)
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
