The promoter was used to drive ubiquitous expression of a human cDNA containing a 3 bp deletion (delta GAG) identified in patients with DYT1 dystonia. Two lines were created (hMT1 and hMT2) with a 2-fold and 1.2-fold increase in expression levels, respectively. (J:98716)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6 x C3H)F1
--
Insertion
--
1
--
4

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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