Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 8 week old male (born 9/15/2002) with a n4 hour fasted plasma total cholesterol of 17 mg/dl and HDL cholesterol of 15 mg/dl, which is approximately 85% and 79% lower than controls, respectively. This mutant mouse strain may be useful in studies of cholesterol homeostasis.
Following multidose ethylnitrosourea (ENU) treatments to induce mutations in male founder C57BL/6J mice (Stock No. 000664), a forward genetic screen was utilized to identify phenotypic deviants in complex heart, lung, blood, and sleep disorders, at the Mouse Heart, Lung, Blood, and Sleep Disorders (HLBS) Center at The Jackson Laboratory. hlb218 was mapped by crossing to 129S1/SvImJ mice. Mapping identified the location of the mutation in an interval of 19-44 cM on Chromosome 10.
|Allele Name||heart, lung and blood, 218|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Pla2g12b, phospholipase A2, group XIIB|
|Strain of Origin||C57BL/6J|
|Molecular Note||ENU induced a G to A transition in exon 3 resulting in a cysteine to tyrosine mutation at position 129 (C129Y).|