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A fusion promoter with tetO was used to drive repressible, cardiac expression of the human gene with an T to A substitution at position 1553 that results in the amino acid substitution of asparagine with isoleucine at position 488 (N488I). Thirteen lines were created with 2 exhibiting robust expression and phenotype. No line numbers were given. (J:145090)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
