在GRCm38染色体11的第46,338,217位碱基(基对),由ENU诱导的A替换为G的突变,对应于NC_000077的GenBank基因组区域的第51,299位。这个变异在mRNA序列NM_001281965中的位置是第1,240位,位于17个外显子中的12个之内。该突变导致蛋白质(isoform 1)中第379位的苯丙氨酸(Phenylalanine,F)被替换为亮氨酸(Leucine,L)。(参考文献:J:236673)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
2
--

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部