在GRCm38染色体1号上,由ENU诱导的T到A的转换发生在58,833,698号基对,或者在GenBank的NC_000067基因组区域的38,471号位置。这个变异对应于NM_009812 mRNA序列中的第1,125位氨基酸,位于9个外显子中的7个内。该变异导致caspase-8蛋白(isoform 1)中第244位的His被Glu替换,即H244Q。(来源:J:272851)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
显性
1
4
--

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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