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A loxP site flanked neomycin resistance gene cassette and a human gene fragment containing an amino acid substitution of tryptophan for arginine at position 248 (p.R248W) replaced intron 4 through 10. The neo cassette was removed by Cre-mediated recombination. The presence of the mutations was confirmed by Southern blot and sequence analysis. (J:126497)
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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References Literature
Title
PMID
Journal
Year
IF
