Mouse Genome Informatics
hm
    Tfr2tm1Slu/Tfr2tm1Slu
involves: 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Perl's staining of liver sections of wild-type and Tfr2tm1Slu/Tfr2tm1Slu mice

homeostasis/metabolism
• homozygotes exhibit abnormalities in iron homeostasis
• at 4 weeks of age, homozygotes maintained on a standard diet show significantly reduced splenic iron concentrations (239 +/- 13 ug/g) relative to wild-type (490 +/- 75 ug/g) and heterozygous control mice (451 +/- 30 ug/g)
• little iron is detectable in splenic reticuloendothelial macrophages from homozygous mutant mice, as revealed by Perls' staining
• at 4 weeks of age, homozygotes maintained on a standard diet display significantly increased transferrin saturations (88.9 +/- 5.3 ug/g) relative to wild-type (56.2 +/- 5.3 ug/g) and heterozygous control mice (57 +/- 7.8 ug/g)
• at 4 weeks of age, homozygotes maintained on a standard diet show significantly increased liver iron concentrations (1916 +/- 145 ug/g) relative to wild-type (382 +/- 43 ug/g) and heterozygous control mice (460 +/- 46 ug/g)
• iron deposition in mutant liver tissue is hepatocellular with a marked gradient from periportal to pericentral hepatocytes, as revealed by Perls' Prussian blue staining
• in contrast, kidney iron concentrations remain relatively unaffected

hematopoietic system
N
• at 4 weeks of age, homozygotes show normal erythrocyte production, with no significant differences in hemoglobin levels, hematocrits, mean corpuscular volumes, or reticulocyte counts relative to wild-type and heterozygous control mice (J:78360)
• at 4 weeks of age, homozygotes maintained on a standard diet show significantly reduced splenic iron concentrations (239 +/- 13 ug/g) relative to wild-type (490 +/- 75 ug/g) and heterozygous control mice (451 +/- 30 ug/g)
• little iron is detectable in splenic reticuloendothelial macrophages from homozygous mutant mice, as revealed by Perls' staining

immune system
• at 4 weeks of age, homozygotes maintained on a standard diet show significantly reduced splenic iron concentrations (239 +/- 13 ug/g) relative to wild-type (490 +/- 75 ug/g) and heterozygous control mice (451 +/- 30 ug/g)
• little iron is detectable in splenic reticuloendothelial macrophages from homozygous mutant mice, as revealed by Perls' staining

liver/biliary system
• at 4 weeks of age, homozygotes maintained on a standard diet show significantly increased liver iron concentrations (1916 +/- 145 ug/g) relative to wild-type (382 +/- 43 ug/g) and heterozygous control mice (460 +/- 46 ug/g)
• iron deposition in mutant liver tissue is hepatocellular with a marked gradient from periportal to pericentral hepatocytes, as revealed by Perls' Prussian blue staining
• in contrast, kidney iron concentrations remain relatively unaffected

Mouse Models of Human Disease
OMIM IDRef(s)
Hemochromatosis, Type 3; HFE3 604250 J:78360