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Site-directed mutagenesis was used to insert a nucleotide substitution in exon 12 of the locus, altering lysine to alanine at codon 536 (K536A - GAAG to AGCT) and introducing an Alu1 site. The substitution was initially described as K517A. In addition, a FRT-flanked neomycin-resistance gene followed by a loxP site is located downstream of exon 12. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:303230)
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
