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The human EPM2A cDNA containing a DSP-inactivating point mutation of a G to C change at position 797 resulting in a cysteine to serine substitution at amino acid 266 (p.C266S) with a c-myc tag at the 5' end is under the control of the CAG promoter (consisting of the cytomegalovirus immediate-early enhancer and the chicken beta-actin promoter). Two lines were generated. This line shows transgene expression in the brain, skeletal muscle, heart and liver. (J:262504)
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
