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This mutation is an insertion of a B2 short interspersed element (SINE) in the 3' untranslated region (UTR) of the gene. The transcript from the mutant allele terminates at the 3' end of the SINE, with the consequence that the mutant mRNA is ~460 bp shorter than the reference sequence (NM 001111062). Higher mRNA levels are present in the nucleus accumbens and striatum of C57BL/6J (Comt1B2i/Comt1B2i) than of DBA/2J (Comt+/Comt+) mice. The hippocampal COMT1 specific activity of male C57BL/6J mice is ~1.7-fold that of DBA/2J males. (J:162759)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
