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 an 8 week old female (born 1/5/2003) with a 4 hour fasted plasma total cholesterol of 35 mg/dl and an HDL of 26 mg/dl, which is approximately 58% and 48% lower than controls, respectively. One female sibling was similarly affected. This mutant mouse strain may be useful in studies of hypercholesterolemia.
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. Hlb320 was mapped by crossing to 129S1/SvImJ mice. Mapping identified the location of the mutation in an interval of 24 cM on Chromosome 1, between D1Mit346 and D1Mit166.
|Allele Name||heart, lung and blood 320|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Hpn, hepsin|
|Strain of Origin||C57BL/6J|
|Molecular Note||ENU induced a T to C mutation in the second base pair of the 3' splice site of exon 8. Northern blot analysis indicates reduced expression levels in the liver.|