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A targeting vector was designed to replace exon 19 with one specifying a change of glutamic acid to lysine at amino acid position 1179 (c.3535G>A (GAA-AAA)) , which is homologous to a human Glu1200Lys mutation correlated with stuttering. The targeting vector also contained an internal ribosome entry site (IRES) to allow initiation of translation of an inserted beta-galactoside gene (beta-gal) for subsequent gene expression studies in tissues, as well as a neomycin resistance cassette (PGK-Neo-pA) for selection of the transfected ES cells. (J:260041)
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
