在第十号染色体的enu诱导的C到T突变发生在7,462,428(版本v38)或基因在GenBank的基因组区域NC_000076中的1,524,257位点,对应于NM_023115 mRNA序列的第31个外显子中的第4,499位氨基酸(变异A)。这个突变导致了第1,360位的Arg(赖氨酸)被替换为Trp(色氨酸),在蛋白质中表现为R1360W。(参考文献:J:236676)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
10
--

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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