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The mouse promoter was used to drive cardiac-specific 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). Eight lines were created with line 4623 selected as the representative line. This line carried 20 copies of the transgene. (J:128648)
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
