| First Author | Bernstein SE | Year | 1986 |
| Journal | Mouse News Lett | Volume | 75 |
| Pages | 29 | Mgi Jnum | J:64456 |
| Mgi Id | MGI:1889268 | Citation | Bernstein SE (1986) hpx - hypotransferrinemia with hemochromatosis. Mouse News Lett 75:29 |
| abstractText | Full text of MNL contribution: c. Hypotransferrinemia with hemochromatosis, (hpx). A newly discovered spontaneous mutation in BALB~CJ mice (provisionally designated hpx) induces hypotransferrinemia and hemochromatosis, an almost exact model of the human atransferrinemic syndrome. The recessive gene, probably regulatory in function, is linked with tk and du on Chromosome 9 in the region of Trf. It initiates a neonatally lethal hypochromic anemia. Serum transferrin (XFN) levels are < 2.5 mg/dl and injections of highly purified mouse XFN life-spares mutants for at least 600 days. Concentrated XFN from hpx mutants appears normal, having the same Mol. wt., IEP values, and antigenic specificities as normal BALB/cJ controls. Fourteen day embryos have a severe XFN deficiency, and hepatic iron loading is visible. At 6 months, homozygotes have severe iron loading of liver, heart, kidney, and pancreatic tissues. Hypochromia (MCHC of 22 vs 33 for +/+ controls) persists in the face of progressive hyperferremia. Elevated iron clearance times with rapid influx of iron to the liver followed IV Fe59. Very high concentrations (2100% normal) of red Fe59 (not bound to XFN) appeared in hepatic tissues within 24 hours though XFN remained at the 2 mg/dl level, and no duodenal XFN was detectable. Heterozygotes have normal blood values but half normal concentrations of XFN. Later in life they too develop hyperferremia. (S. E. Bernstein) |
