这个ENU突变可能是A到T的转换,导致22-1突变体Pax3基因中第86位的异亮氨酸变为天冬氨酸。由于所有已知配对盒蛋白的配对盒区域都保守这一位置,没有进行补救性测试来确认这一点(来源:J:163657)

Basic Information

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