在染色体5的v38上,由ENU诱导的从基对140,885,877到G的转变,或者在GenBank的基因组区域NC_000071中的位置114,720。这个变异对应于mRNA序列NM_175362中第16个外显子的第2,389位氨基酸,总共25个外显子。该变异导致蛋白质中第690位的丝氨酸被甘氨酸替换(S690G)。(引用:J:254856)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
半显性
1
7
--

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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