在ENU突变小鼠的基因组NM_010566中,检测到了一个碱基从A变为T的转换,发生在第2099位。这会导致第641位氨基酸由异亮氨酸变为苏氨酸的改变。体外的5'-磷酸酶活性实验显示,与野生型对照相比,酶活性有所降低。 Western blot和qRT-PCR的分析也显示了蛋白质水平和mRNA量的减少。(来源:J:173266)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Chemically induced
单点
--
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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