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The targeting vector was designed to insert an FRT-flanked neomycin resistance (neo) cassette downstream of exon 5 of the gene. Three common alternative allelic variants (R71H-I229A-R292Q) equivalent to those found in humans (R71H-G230A-R293Q) were introduced as follows - exon 3 was modified to harbor R71H, exon 6 modified to harbor G230A, and exon 7a was modified to harbor R293Q. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:247744)
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
