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The targeting vector was designed (by site-directed mutagenesis) to insert the arginine to histidine amino acid substitution at position 76 (R76H) (human 79) into exon 1 and place a loxP-flanked neomycin cassette into intron 3. R79H is associated with Alexander disease in humans. Cre-mediated recombination removed the floxed neo cassette. Quantitative real-time PCR showed that Gfap expression is elevated. (J:114689)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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
