在7号染色体的v38位点(基对125,567,221),或者NC_000073基因组区域的14,940位,由ENU诱导发生了T到C的转换。这个变异对应于NM_001008700 mRNA序列中第46位的氨基酸,位于第4个外显子。该突变导致IL-4R蛋白中色氨酸(Trp)被替换为arginine(Arg),位置为46(等同于W46R)。(来源:J:267558)

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
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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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