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This transgene consists of the beta-actin promotor driving expression of a human GNE cDNA with a D176V mutation. The cDNA was also flanked with loxP sites. Expression of the transgene was detected in the skeletal muscle and at lower levels in the heart, brain, kidney, spleen, and liver. Four lines were generated, lines 3,6,7 and 9, with 2, 3, 4, and 5 copies of the transgene integrated. Line 9 was used for all phenotypic analysis. (J:117854)
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
