在痉挛小鼠中,突变是线性内含子1(LINE-1)插入了一个7.1千碱基对的元素,这个元素位于基因的第6内含子。该基因(Glrb)的mRNA在纯合子小鼠的整个大脑中显著减少,并且显示出了异常剪接。(来源:18530, 21071, 190416)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Spontaneous
插入
隐性
1
2
28

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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