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EN
A loxP site was inserted upstream of exon 2, exons 4-9 were replaced with the orthologous human exons, the human exon 7 introduced contains a mutation resulting in an R248Q substitution, and an FRT and loxP site flanked neomycin resistance gene cassette was inserted into intron 10. Flp-mediated recombination removed the neo cassette leaving exons 2-10 floxed. (J:264731)
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
