Phenotypes associated with this allele
hematopoietic system
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• Fam123b mRNA levels are increased by 16-fold in the spleen
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homeostasis/metabolism
immune system
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• Fam123b mRNA levels are increased by 16-fold in the spleen
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skeleton
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• Fam123b mRNA levels are increased by 10-fold in the bone marrow
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hematopoietic system
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• active but ineffective erythropoiesis and hemolysis
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• anemia is associated with a stress erythropoietic response characterized by an expansion of polychromatophilic normoblasts and reticulocytes in both marrow and spleen
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• expansion of polychromatophilic normoblasts in both marrow and spleen
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• expansion of reticulocytes in both marrow and spleen
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homeostasis/metabolism
immune system
growth/size/body
hematopoietic system
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• mean corpuscular hemoglobin levels are decreased compared to double heterozygous Hbb-b1tm1Unc and Hbb-b2tm1Unc mutants
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• erythrocyte mean corpuscular volume is decreased compared to double heterozygous Hbb-b1tm1Unc and Hbb-b2tm1Unc mutants
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homeostasis/metabolism
liver/biliary system
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• mice show less hepatic iron overload than double heterozygous Hbb-b1tm1Unc and Hbb-b2tm1Unc mutants
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hematopoietic system
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• decreased to 27.5% from ~55% in wild-type embryos
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integument
mortality/aging
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• live-born offspring are reduced by ~50% relative to expected values (observed - 6; expected - 13.7)
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hematopoietic system
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• embryos are anemic
• survivors are more anemic in early adulthood than thalassemic mice that are wild-type or heterozygous for Eraf expression
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• more erythrocytes containing inclusion bodies are observed in mutants compared to mice with thalassemia alone
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• decreased to 22.6% from 27.5% in thalassemic embryos with wild-type or heterozygous Eraf expression (or ~55% in wild-type embryos); variability is larger with Eraf-deficiency with hematocrit values in some mice of ~16%
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• greater variation in hemoglobin content of mutant erythrocytes, evidenced by increased hemoglobin distribution width (HDW), is observed compared to thalassemic mice that are wild-type or heterozygous for Eraf expression
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• mice have smaller red blood cells with lower mean corpuscular volume than thalassemic mice alone
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• increased numbers of nucleated liver-derived definitive erythrocytes are detected
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• greater variation in size of erythrocytes as shown by increased red blood cell distribution width (RBW) compared to thalassemic mice that are wild-type or heterozygous for Eraf expression
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• erythrocytes have more prominent inclusion bodies (composed of denatured hemoglobin chains (Heinz bodies)) than thalassemic mice that are wild-type or heterozygous for Eraf expression
• erythrocytes show predominantly alpha-globin precipitate
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integument
Allelic
Composition |
Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
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Genetic
Background |
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 |
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mortality/aging
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• live-born offspring are reduced by ~50% relative to expected values (observed - 6; expected - 13.7)
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hematopoietic system
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• embryos are anemic
• survivors are more anemic in early adulthood than thalassemic mice that are wild-type or heterozygous for Eraf expression
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• more erythrocytes containing inclusion bodies are observed in mutants compared to mice with thalassemia alone
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• decreased to 22.6% from 27.5% in thalassemic embryos with wild-type or heterozygous Eraf expression (or ~55% in wild-type embryos); variability is larger with Eraf-deficiency with hematocrit values in some mice of ~16%
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• greater variation in hemoglobin content of mutant erythrocytes, evidenced by increased hemoglobin distribution width (HDW), is observed compared to thalassemic mice that are wild-type or heterozygous for Eraf expression
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• mice have smaller red blood cells with lower mean corpuscular volume than thalassemic mice alone
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• increased numbers of nucleated liver-derived definitive erythrocytes are detected
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• greater variation in size of erythrocytes as shown by increased red blood cell distribution width (RBW) compared to thalassemic mice that are wild-type or heterozygous for Eraf expression
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• erythrocytes have more prominent inclusion bodies (composed of denatured hemoglobin chains (Heinz bodies)) than thalassemic mice that are wild-type or heterozygous for Eraf expression
• erythrocytes show predominantly alpha-globin precipitate
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integument
hematopoietic system
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• decreased to 27.5% from ~55% in wild-type embryos
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integument
mortality/aging
hematopoietic system
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbb-b1tm1Unc mutation
(2 available);
any
Hbb-b1 mutation
(7 available)
Hbb-b2tm1Unc mutation
(2 available);
any
Hbb-b2 mutation
(5 available)
Tg(HBB*)L2Pai mutation
(0 available)
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hematopoietic system
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• active but ineffective erythropoiesis and hemolysis
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homeostasis/metabolism
immune system
growth/size/body
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbb-b1tm1Unc mutation
(2 available);
any
Hbb-b1 mutation
(7 available)
Hbb-b2tm1Unc mutation
(2 available);
any
Hbb-b2 mutation
(5 available)
Tg(HBB*)L2Pai mutation
(0 available)
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mortality/aging
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• embryos survive until late in pregnancy (E18) but no live pups are seen
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growth/size/body
hematopoietic system
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbb-b1tm1Unc mutation
(2 available);
any
Hbb-b1 mutation
(7 available)
Hbb-b2tm1Unc mutation
(2 available);
any
Hbb-b2 mutation
(5 available)
Tmprss6tm1Otin mutation
(0 available);
any
Tmprss6 mutation
(46 available)
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hematopoietic system
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• increased in males and females compared to mutant male and female mice wild-type for Tmprss6 at 6 months of age
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• increased in males compared to mutant male mice wild-type for Tmprss6
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• decreased in males compared to mutant male mice wild-type for Tmprss6 at 6 months of age
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• total spleen iron, but not iron per gram of tissue, is decreased in males compared to mutant male mice wild-type for Tmprss6
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• reduced size in males compared to mutant male mice wild-type for Tmprss6
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homeostasis/metabolism
liver/biliary system
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• decreased in males compared to mutant male mice wild-type for Tmprss6
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immune system
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• total spleen iron, but not iron per gram of tissue, is decreased in males compared to mutant male mice wild-type for Tmprss6
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• reduced size in males compared to mutant male mice wild-type for Tmprss6
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbb-b1tm1Unc mutation
(2 available);
any
Hbb-b1 mutation
(7 available)
Hbb-b2tm1Unc mutation
(2 available);
any
Hbb-b2 mutation
(5 available)
Tmprss6tm1Otin mutation
(0 available);
any
Tmprss6 mutation
(46 available)
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hematopoietic system
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• reduced percentage in the spleen compared to mutant mice wild-type for Tmprss6
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• abnormalities are ameliorated compared to mutant mice wild-type for Tmprss6
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• improved erythropoiesis compared to mutant mice wild-type for Tmprss6
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• increased by about 30% compared to mutant mice wild-type for Tmprss6
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• increased by about 15% compared to mutant mice wild-type for Tmprss6
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• reduced percentage compared to mutant mice wild-type for Tmprss6
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• reduced size compared to mutant mice wild-type for Tmprss6
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homeostasis/metabolism
immune system
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• reduced size compared to mutant mice wild-type for Tmprss6
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growth/size/body
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• F1 and F2 heterozygotes are significantly smaller
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• the spleen weight to body weight ratio is significantly greater in heterozygotes
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hematopoietic system
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• at 7 weeks, mutants have a decreased red blood cell count with variation in the shape and inequality in the size (many microcytes and occasional polychromatic macrocytes) of the red blood cells
(J:30155)
• hematopoietic stem cells from heterozygotes transfected with a large fragment of the human beta globin gene and injected back into the heterozygote restored red blood cell counts to normal
(J:88672)
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• heterozygotes have increased bone marrow cellularity and increased numbers of megakaryocytes and erythroid precursors
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• red blood cells are generally hypochromic
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• nucleated red blood cells are found
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• reticulocyte counts are increased 21-fold
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• erythroid hyperplasia
(J:30155)
• megakaryocytes are present
(J:30155)
• iron particles are present in the macrophages in the centers of areas of erythropoiesis
(J:30155)
• hematopoietic stem cells from heterozygotes transfected with a large fragment of the human beta globin gene and injected back into the heterozygote restored normal spleen morphology
(J:88672)
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• the spleen weight to body weight ratio is significantly greater in heterozygotes
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• there is no clear distinction between the red and white pulp
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• the white pulp is almost completely replaced by hematopoietic tissue
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homeostasis/metabolism
immune system
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• erythroid hyperplasia
(J:30155)
• megakaryocytes are present
(J:30155)
• iron particles are present in the macrophages in the centers of areas of erythropoiesis
(J:30155)
• hematopoietic stem cells from heterozygotes transfected with a large fragment of the human beta globin gene and injected back into the heterozygote restored normal spleen morphology
(J:88672)
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• the spleen weight to body weight ratio is significantly greater in heterozygotes
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• there is no clear distinction between the red and white pulp
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• the white pulp is almost completely replaced by hematopoietic tissue
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limbs/digits/tail
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• heterozygotes have a longer zone of proliferation and a shorter zone of osteogenesis
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skeleton
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• heterozygotes have a longer zone of proliferation and a shorter zone of osteogenesis
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integument
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• heterozygotes are pale at birth
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mortality/aging
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• all homozygous embryos are stillborn or die within 12 hours of birth
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hematopoietic system
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• increase in the proportion of immature erythroid progenitor cells in the spleen
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• in males and females compared to sex and age matched littermates at 6 months of age
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• in males and females compared to sex and age matched littermates at 6 months of age
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• in males and females compared to sex and age matched littermates at 6 months of age
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• increase in the percentage of reticulocytes
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• more severe in females than in males
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homeostasis/metabolism
liver/biliary system
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• more severe in females than in males
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immune system
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• more severe in females than in males
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growth/size/body
mortality/aging
hematopoietic system
Analysis Tools