A loxP site was inserted into intron 8 and an FRT site flanked neomycin resistance gene cassette and a second loxP site downstream of exon 10. A modified exon 9 where cysteine codon 362 (TGC) was mutated to alanine (p.C362A), together with a copy of the wild-type exon 10 and intervening intron 9, was inserted downstream of the gene and the 3' loxP site. The neo cassette was removed through subsequent flp-mediated recombination, leaving a conditional allele with endogenous exons 9 and 10 floxed. When these exons are deleted through cre-mediated recombination, the allele will express the mutated p.C362A version of the gene. (J:285940)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count