这种突变是在基因的3'非翻译区(UTR)插入了一个B2短间隔元件(SINE)。突变等位基因的转录产物在SINE的3'末端终止,导致突变mRNA比参考序列短约460bp。在C57BL/6J(Comt1B2i/Comt1B2i)小鼠的纹状体和海马体中,mRNA水平较高,而DBA/2J(Comt+/Comt+)小鼠则不然。雄性C57BL/6J小鼠的COMT1特异性活性大约是DBA/2J雄性的1.7倍。(来源:J:162759)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
multiple strains
Spontaneous
转座子插入
显性
1
4
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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