这个等位基因包含一个7.2kb的新型L1元素插入,插入位置在3号和4号外显子之间,内含子序列中。这个插入减少了该基因两个剪接异构体的mRNA量,并且阻止了第三种异构体的表达。(来源:J:56633)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H
Spontaneous
转座子插入
隐性
1
16
12

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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