在两个可选择性剪接区域的首个G到A变异导致了第408位的Alanine被替换为Threonine,这个变异在p.A408T的位置。这种突变只影响Dnm1ax的等位基因序列,因为a外显子在Dnm1bx的版本中被剪切掉,所以所有Dnm1ax的转录本都会受到影响。(来源:J:163311)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
单点
半显性
1
5
6

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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