在C57BL/6J (T)小鼠中,与C57BL/6N (C)相比,检测到一个序列变异,发生在3,222,537位(GRCm38参考基因组)。这个变异位于C端的富含亮氨酸的重复区域,导致了第1034位氨基酸从arginine变为lysine(p.R1034K)。信息来源:(J:220417)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
单点
--
1
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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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