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中文
在染色体16的第15,795,094个碱基(版本v38)或NC_000082的GenBank基因组区域的第157,652位，由ENU诱导发生了T到C的转换。这个变异对应于NM_011159 mRNA序列中第9,538位的氨基酸，位于共有86个外显子的第68个外显子。该变异导致DNA-PKCS蛋白中第3,172位的Valine被Alanine替换，即V3172A。(来源：J:272521)
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
