The mutant allele contains point mutations changing the nucleotides corresponding to positions 76 and 77 of the mRNA sequence (NM_007453.4) from CA to GC, replacing the CAC histidine codon at amino acid position 26 to GCC, an alanine codon (H26A). This histidine, with S32 and D140, constitute the phospholipase A2 (PLA2) catalytic site. A frt site-flanked neomycin resistance cassette introduced between exons 1 and 2 by the targeting vector has been deleted by FLP recombinase, leaving a single frt site. The H26A mutant protein has lost phospholipase A 2 (PLA2) activity, but retains lysophosphatidylcholine acyl transferase (LPCAT) activity; as for peroxidase activity, it retains the ability to reduce short chain hydroperoxides, but cannot reduce phospholipid hydroperoxides. (J:94077, J:231458)
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