这个是在匹兹堡大学进行的筛选中发现的ENU诱发突变。分子异常是cDNA序列第5外显子第428位的T到C替换(c.428T>C,NM_001081174),导致编码蛋白质的苯丙氨酸被丝氨酸取代(p.F143S)。(引用:J:175213)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
未定义
--
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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