Phenotypes Associated with This Genotype

Genotype
MGI:2655464

• Allelic Composition: Tfr2^tm1Slu/Tfr2^tm1Slu
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Perl's staining of liver sections of wild-type and Tfr2^tm1Slu/Tfr2^tm1Slu mice

homeostasis/metabolism

abnormal iron homeostasis ( J:78360 )

• homozygotes exhibit abnormalities in iron homeostasis

decreased spleen iron level ( 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

increased circulating iron level ( J:78360 )

• 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)

increased liver iron level ( J:78360 )

• 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

hematopoietic system phenotype ( J:78360 )

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

decreased spleen iron level ( 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

decreased spleen iron level ( 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

liver/biliary system

increased liver iron level ( J:78360 )

• 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		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 3		DOID:0111030	OMIM:604250	J:78360