在染色体8的v38位置,由ENU诱导的G到A的转换,具体位置是71,686,058 base pair,或者在GenBank的NC_000074基因组区域的9,676处。这个变异对应于NM_010589 mRNA序列中第21个外显子的第3,109位氨基酸,总共25个外显子。这个变异导致JAK3蛋白中第967位的 alanine 被替换成了 threonine,即A967T。(来源:J:272398)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
3
--

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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