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The mouse promoter was used to drive brain and heart specific expression of the human cDNA with TC insertions at the cDNA positions 498 and 499, respectively. This insertion leads to a frame-shift that alters the last 9 amino acids of the C-terminus and adds 16 additional amino acids. Four lines were created (lines 1, 2, 3, and 4) with 40 to 50, 5 to 10, 1 to 5, and 1 to 5 copies of the transgene, respectively. Line 4 was used for subsequent studies. (J:131053)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
