这个ENU诱导的突变在杂合子小鼠中表达出了正常水平50%的编码酶。研究表明,这个突变发生在exon2的第276位,是一个T到A的转换,导致密码子91从酪氨酸变为终止密码子。由此会产生一个由89个氨基酸组成的截短蛋白。(来源:J:126359)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(101/El x C3H/El)F1
Chemically induced
单点
--
1
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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