在GRCm38染色体1的第5,884,770个核苷酸位点(基对),由ENU诱导发生了T到C的转换,或者在GenBank的NC_000067基因组区域的第49,543位,对应于caspase-8编码序列。这个变异对应于mRNA序列NM_009812中的第1,628位氨基酸,位于9个外显子中的8个内。该变异导致了等位基因为V432A的Valine替换为Alanine(1,628位的V432A)。(参考文献:J:255007)

Basic Information

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