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The human orthologous genomic sequence was inserted into the mouse genome, replacing the endogenous locus. The human sequence, consisting of chromosome 1 nucleotides 3257291-3254243 (NCBI reference sequence NW_001838531.2), was PCR-generated from a BAC. An FRT site flanked neomycin resistance gene cassette was inserted into intron 4. The neo cassette was removed through subsequent flp-mediated recombination. Expression from this allele was confirmed by RT-PCR and the translated peptide was shown to be fully functional. (J:243763)
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
