在8号染色体的v38位点,由ENU诱导的T到C的转换,具体位置是111,322,748或NC_000074的基因组区域的15,709号碱基。这个变异等同于NM_001310613 mRNA序列中第1,126位的氨基酸,位于11个总exons的第5个exon内。该突变导致MLKL蛋白中第248位的丝氨酸被脯氨酸替代,即S248P。(引用:J:272831)

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
1
--

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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