Alanine codon 393 (GCT) in exon 7 was changed to threonine (ACT) (p.A393T) and an FRT site flanked neomycin resistance gene cassette was inserted into intron 8. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation is the equivalent of the human p.A391T mutation (SNP rs13107325) associated with numerous traits, including reduced arterial blood pressure, increased body mass index and hyperlipidemia. (J:341571)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count