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

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Nucleotide substitutions
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1
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1

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

References Literature

Title
PMID
Journal
Year
IF
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