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A loxP site and FRT flanked neo cassette were inserted in intron 44, a synthetic Poly A signal, F3 flanked puro cassette and loxP site were inserted after exon 51, and a repeat of exons 45-51 with a CG7742-7743>AC (p.R2482H) mutation in exon 51 were inserted via homologous recombination. Recombinase mediated recombination removed the neo and puro cassettes, exons 45-51and the synthetic PolyA sequence allowing expression of the mutated exon 51. (J:261124)
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
