Phenotypes associated with this allele

• Allele Symbol: Hbb-b1⁺
• Allele Name: wild type
• Allele ID: MGI:2430988
• Summary: 16 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Hbb-b1^Rbc13/Hbb-b1^+	involves: BALB/c * C57BL/6	MGI:5460886
ht2	Hbb-b1^tm1Shs/Hbb-b1^+	involves: C57BL/6CrSlc	MGI:4441584
ht3	Hbb-b1^MommeD7/Hbb-b1^+	involves: FVB/N	MGI:3821603
cx4	Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	B6;129-Hbb-b1^tm1Unc Hbb-b2^tm1Unc/J	MGI:5582253
cx5	Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd	MGI:5637429
cx6	Erfe^tm1Lex/Erfe^tm1Lex Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * 129S5/SvEvBrd * C57BL/6	MGI:5582255
cx7	Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:3769342
cx8	Ahsp^tm1.1Mjwe/Ahsp^+ Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:3769337
cx9	Ahsp^tm1.1Mjwe/Ahsp^tm1.1Mjwe Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:3769338
cx10	Ahsp^tm1Mjwe/Ahsp^+ Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:3769340
cx11	Ahsp^tm1Mjwe/Ahsp^tm1Mjwe Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:3769341
cx12	Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+ Tg(HBB*)L2Pai/0	involves: 129P2/OlaHsd * C57BL/6	MGI:6306309
cx13	Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+ Tmprss6^tm1Otin/Tmprss6^+	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N	MGI:5441342
cx14	Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+ Tmprss6^tm1Otin/Tmprss6^tm1Otin	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N	MGI:5441341
cx15	Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3036892
cx16	Hbb-b1^tm1Unc/Hbb-b1^+ Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * C57BL/6N	MGI:5441339

Genotype
MGI:5460886

ht1

• Allelic Composition: Hbb-b1^Rbc13/Hbb-b1⁺
• Genetic Background: involves: BALB/c * C57BL/6

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

cellular

abnormal erythrocyte basophilic stippling ( J:190446 )

• occasional basophilic stippling in peripheral blood smears

hematopoietic system

abnormal erythrocyte basophilic stippling ( J:190446 )

• occasional basophilic stippling in peripheral blood smears

enlarged spleen ( J:190446 )

• increased 5-fold in size

extramedullary hematopoiesis ( J:190446 )

microcytic anemia ( J:190446 )

• at 7 weeks of age

hypochromic microcytic anemia ( J:190446 )

decreased mean corpuscular hemoglobin ( J:190446 )

• at 7 weeks of age

decreased mean corpuscular volume ( J:190446 )

increased nucleated erythrocyte cell number ( J:190446 )

• increase of immature CD71+ TER-119+ erythroid cells

increased red blood cell distribution width ( J:190446 )

• at 7 weeks of age

anisocytosis ( J:190446 )

• marked

anisopoikilocytosis ( J:190446 )

leptocytosis ( J:190446 )

• abundant target cells

poikilocytosis ( J:190446 )

schistocytosis ( J:190446 )

• mild red cell fragmentation

polychromatophilia ( J:190446 )

spherocytosis ( J:190446 )

increased spleen red pulp amount ( J:190446 )

increased erythrocyte clearance ( J:190446 )

• a 50% reduction in red cell half-life

immune system

enlarged spleen ( J:190446 )

• increased 5-fold in size

increased spleen red pulp amount ( J:190446 )

growth/size/body

enlarged spleen ( J:190446 )

• increased 5-fold in size

Genotype
MGI:4441584

ht2

• Allelic Composition: Hbb-b1^tm1Shs/Hbb-b1⁺
• Genetic Background: involves: C57BL/6CrSlc

hematopoietic system

anemia ( J:81902 )

• mild anemia without signs of hemolysis

abnormal hemoglobin ( J:81902 )

• the oxygen dissociation of red blood cells shows low affinity for oxygen in vitro

decreased hemoglobin content ( J:81902 )

• in peripheral blood

homeostasis/metabolism

increased carbon dioxide production ( J:81902 )

• produce more carbon dioxide in room air and hypoxic conditions

increased oxygen consumption ( J:81902 )

• consume more oxygen in room air and hypoxic conditions

• consume more oxygen in skeletal muscles by oxidative phosphorylation

hyperoxia ( J:81902 )

• enhanced tissue oxygenation

acidosis ( J:81902 )

• mutants show low arterial blood pH associated with an elevated PaCO₂ both in room air and under hypoxic conditions

increased aerobic running capacity ( J:81902 )

• run more than twice as far as wild-type mice spontaneously on a running wheel

muscle

abnormal skeletal muscle fiber type ratio ( J:81902 )

• on histochemical staining for ATPase, show a higher percentage of type IIA fibers and a lower percentage of type IIB fibers in deep regions of the muscle

• however, show no fiber hypertrophy or atrophy

respiratory system

decreased pulmonary ventilation ( J:81902 )

• mutants consistently have depressed ventilation before and during hypoxia, although they show a similiar pattern of ventilatory responses to wild-type, such as the initial hypoxic response and subsequent depression

• mutants do not show lung disease causing hypoventilation

cellular

abnormal aerobic respiration ( J:81902 )

• succinate dehydrogenase activities in both type IIA and type IIB muscle fibers are greater in deep regions of the tibialis anterior compared to wild-type mice

Genotype
MGI:3821603

ht3

• Allelic Composition: Hbb-b1^MommeD7/Hbb-b1⁺
• Genetic Background: involves: FVB/N

hematopoietic system

abnormal erythrocyte basophilic stippling ( J:190446 )

• occasional basophilic stippling in peripheral blood smears

enlarged spleen ( J:142335 , J:190446 )

• severe (J:142335)

• increased 5-fold in size (J:190446)

extramedullary hematopoiesis ( J:190446 )

microcytic anemia ( J:190446 )

• at 7 weeks of age

hypochromic microcytic anemia ( J:190446 )

decreased mean corpuscular hemoglobin ( J:190446 )

• at 7 weeks of age

decreased mean corpuscular volume ( J:190446 )

increased nucleated erythrocyte cell number ( J:190446 )

• increase of immature CD71+ TER-119+ erythroid cells

increased red blood cell distribution width ( J:190446 )

• at 7 weeks of age

anisocytosis ( J:190446 )

• marked

anisopoikilocytosis ( J:190446 )

leptocytosis ( J:190446 )

• abundant target cells

poikilocytosis ( J:190446 )

schistocytosis ( J:190446 )

• mild red cell fragmentation

polychromatophilia ( J:190446 )

spherocytosis ( J:190446 )

reticulocytosis ( J:142335 )

• a 3 fold increase in the number of circulating reticulocytes

increased spleen red pulp amount ( J:190446 )

increased erythrocyte clearance ( J:190446 )

• a 50% reduction in red cell half-life

immune system

enlarged spleen ( J:142335 , J:190446 )

• severe (J:142335)

• increased 5-fold in size (J:190446)

increased spleen red pulp amount ( J:190446 )

growth/size/body

enlarged spleen ( J:142335 , J:190446 )

• severe (J:142335)

• increased 5-fold in size (J:190446)

cellular

abnormal erythrocyte basophilic stippling ( J:190446 )

• occasional basophilic stippling in peripheral blood smears

Genotype
MGI:5582253

cx4

• Allelic Composition: Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: B6;129-Hbb-b1^tm1Unc Hbb-b2^tm1Unc/J

hematopoietic system

anemia ( J:211331 )

abnormal spleen morphology ( J:211331 )

• Fam123b mRNA levels are increased by 16-fold in the spleen

homeostasis/metabolism

increased circulating erythropoietin level ( J:211331 )

• very high serum erythropoietin concentrations

immune system

abnormal spleen morphology ( J:211331 )

• Fam123b mRNA levels are increased by 16-fold in the spleen

skeleton

abnormal bone marrow morphology ( J:211331 )

• Fam123b mRNA levels are increased by 10-fold in the bone marrow

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:211331

Genotype
MGI:5637429

cx5

• Allelic Composition: Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd

hematopoietic system

enlarged spleen ( J:97548 )

abnormal erythropoiesis ( J:97548 )

• active but ineffective erythropoiesis and hemolysis

anemia ( J:154187 )

• anemia is associated with a stress erythropoietic response characterized by an expansion of polychromatophilic normoblasts and reticulocytes in both marrow and spleen

increased erythroblast number ( J:154187 )

• expansion of polychromatophilic normoblasts in both marrow and spleen

decreased erythrocyte cell number ( J:97548 )

decreased hematocrit ( J:97548 )

decreased hemoglobin content ( J:97548 )

decreased mean corpuscular volume ( J:97548 )

increased red blood cell distribution width ( J:97548 )

abnormal reticulocyte cell number ( J:154187 )

• expansion of reticulocytes in both marrow and spleen

reticulocytosis ( J:97548 )

homeostasis/metabolism

increased circulating bilirubin level ( J:97548 )

immune system

enlarged spleen ( J:97548 )

growth/size/body

enlarged spleen ( J:97548 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:154187

Genotype
MGI:5582255

cx6

• Allelic Composition: Erfe^tm1Lex/Erfe^tm1Lex; Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S5/SvEvBrd * C57BL/6

hematopoietic system

decreased mean corpuscular hemoglobin ( J:211331 )

• mean corpuscular hemoglobin levels are decreased compared to double heterozygous Hbb-b1^tm1Unc and Hbb-b2^tm1Unc mutants

decreased mean corpuscular volume ( J:211331 )

• erythrocyte mean corpuscular volume is decreased compared to double heterozygous Hbb-b1^tm1Unc and Hbb-b2^tm1Unc mutants

homeostasis/metabolism

decreased circulating iron level ( J:211331 )

• serum iron concentrations are decreased compared to double heterozygous Hbb-b1^tm1Unc and Hbb-b2^tm1Unc mutants

abnormal hormone level ( J:211331 )

• increase in hepcidin levels

decreased liver iron level ( J:211331 )

• mice show less hepatic iron overload than double heterozygous Hbb-b1^tm1Unc and Hbb-b2^tm1Unc mutants

liver/biliary system

decreased liver iron level ( J:211331 )

• mice show less hepatic iron overload than double heterozygous Hbb-b1^tm1Unc and Hbb-b2^tm1Unc mutants

Genotype
MGI:3769342

cx7

• Allelic Composition: Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

hematopoietic system

decreased hematocrit ( J:94421 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:94421

Genotype
MGI:3769337

cx8

• Allelic Composition: Ahsp^tm1.1Mjwe/Ahsp⁺; Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

hematopoietic system

anemia ( J:94421 )

• embryos are anemic

decreased hematocrit ( J:94421 )

• decreased to 27.5% from ~55% in wild-type embryos

integument

pallor ( J:94421 )

• embryos are pale

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:94421

Genotype
MGI:3769338

cx9

• Allelic Composition: Ahsp^tm1.1Mjwe/Ahsp^tm1.1Mjwe; Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:94421 )

• live-born offspring are reduced by ~50% relative to expected values (observed - 6; expected - 13.7)

hematopoietic system

anemia ( J:94421 )

• embryos are anemic

• survivors are more anemic in early adulthood than thalassemic mice that are wild-type or heterozygous for Eraf expression

abnormal erythrocyte morphology ( J:94421 )

• more erythrocytes containing inclusion bodies are observed in mutants compared to mice with thalassemia alone

decreased hematocrit ( J:94421 )

• 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%

increased hemoglobin concentration distribution width ( J:94421 )

• 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

decreased mean corpuscular volume ( J:94421 )

• mice have smaller red blood cells with lower mean corpuscular volume than thalassemic mice alone

increased nucleated erythrocyte cell number ( J:94421 )

• increased numbers of nucleated liver-derived definitive erythrocytes are detected

anisocytosis ( J:94421 )

• 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

increased number of Heinz bodies ( J:94421 )

• 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

integument

pallor ( J:94421 )

• embryos are pale

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:94421

Genotype
MGI:3769340

cx10

• Allelic Composition: Ahsp^tm1Mjwe/Ahsp⁺; Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

hematopoietic system

anemia ( J:94421 )

• embryos are anemic

decreased hematocrit ( J:94421 )

• decreased to 27.5% from ~55% in wild-type embryos

integument

pallor ( J:94421 )

• embryos are pale

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:94421

Genotype
MGI:3769341

cx11

• Allelic Composition: Ahsp^tm1Mjwe/Ahsp^tm1Mjwe; Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:94421 )

• live-born offspring are reduced by ~50% relative to expected values (observed - 6; expected - 13.7)

hematopoietic system

anemia ( J:94421 )

• embryos are anemic

• survivors are more anemic in early adulthood than thalassemic mice that are wild-type or heterozygous for Eraf expression

abnormal erythrocyte morphology ( J:94421 )

• more erythrocytes containing inclusion bodies are observed in mutants compared to mice with thalassemia alone

decreased hematocrit ( J:94421 )

• 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%

increased hemoglobin concentration distribution width ( J:94421 )

• 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

decreased mean corpuscular volume ( J:94421 )

• mice have smaller red blood cells with lower mean corpuscular volume than thalassemic mice alone

increased nucleated erythrocyte cell number ( J:94421 )

• increased numbers of nucleated liver-derived definitive erythrocytes are detected

anisocytosis ( J:94421 )

• 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

increased number of Heinz bodies ( J:94421 )

• 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

integument

pallor ( J:94421 )

• embryos are pale

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:94421

Genotype
MGI:6306309

cx12

• Allelic Composition: Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺; Tg(HBB*)L2Pai/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

hematopoietic system

enlarged spleen ( J:97548 )

abnormal erythropoiesis ( J:97548 )

• active but ineffective erythropoiesis and hemolysis

decreased erythrocyte cell number ( J:97548 )

decreased hematocrit ( J:97548 )

decreased hemoglobin content ( J:97548 )

decreased mean corpuscular volume ( J:97548 )

increased red blood cell distribution width ( J:97548 )

anisocytosis ( J:97548 )

poikilocytosis ( J:97548 )

reticulocytosis ( J:97548 )

homeostasis/metabolism

increased circulating bilirubin level ( J:97548 )

immune system

enlarged spleen ( J:97548 )

growth/size/body

enlarged spleen ( J:97548 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:97548

Genotype
MGI:5441342

cx13

• Allelic Composition: Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺; Tmprss6^tm1Otin/Tmprss6⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

hematopoietic system

abnormal erythrocyte morphology ( J:185154 )

♂

abnormal erythrocyte cell number ( J:185154 )

• increased in males and females compared to mutant male and female mice wild-type for Tmprss6 at 6 months of age

abnormal hemoglobin content ( J:185154 )

♂ • increased in males compared to mutant male mice wild-type for Tmprss6

decreased mean corpuscular volume ( J:185154 )

♂ • decreased in males compared to mutant male mice wild-type for Tmprss6 at 6 months of age

abnormal spleen iron level ( J:185154 )

♂ • total spleen iron, but not iron per gram of tissue, is decreased in males compared to mutant male mice wild-type for Tmprss6

abnormal spleen size ( J:185154 )

♂ • reduced size in males compared to mutant male mice wild-type for Tmprss6

homeostasis/metabolism

abnormal spleen iron level ( J:185154 )

♂ • total spleen iron, but not iron per gram of tissue, is decreased in males compared to mutant male mice wild-type for Tmprss6

abnormal circulating erythropoietin level ( J:185154 )

♂ • decreased in males compared to mutant male mice wild-type for Tmprss6

abnormal liver iron level ( J:185154 )

♂ • decreased in males compared to mutant male mice wild-type for Tmprss6

liver/biliary system

abnormal liver iron level ( J:185154 )

♂ • decreased in males compared to mutant male mice wild-type for Tmprss6

immune system

abnormal spleen iron level ( J:185154 )

♂ • total spleen iron, but not iron per gram of tissue, is decreased in males compared to mutant male mice wild-type for Tmprss6

abnormal spleen size ( J:185154 )

♂ • reduced size in males compared to mutant male mice wild-type for Tmprss6

Genotype
MGI:5441341

cx14

• Allelic Composition: Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺; Tmprss6^tm1Otin/Tmprss6^tm1Otin
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

hematopoietic system

abnormal erythroid progenitor cell morphology ( J:185154 )

• reduced percentage in the spleen compared to mutant mice wild-type for Tmprss6

abnormal erythrocyte morphology ( J:185154 )

• abnormalities are ameliorated compared to mutant mice wild-type for Tmprss6

abnormal erythropoiesis ( J:185154 )

• improved erythropoiesis compared to mutant mice wild-type for Tmprss6

abnormal erythrocyte cell number ( J:185154 )

• increased by about 30% compared to mutant mice wild-type for Tmprss6

abnormal hemoglobin content ( J:185154 )

• increased by about 15% compared to mutant mice wild-type for Tmprss6

reticulocytopenia ( J:185154 )

• reduced percentage compared to mutant mice wild-type for Tmprss6

abnormal spleen size ( J:185154 )

• reduced size compared to mutant mice wild-type for Tmprss6

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:185154 )

N • iron levels in the spleen and liver are similar to wild-type controls unlike in mutant mice wild-type for Tmprss6

increased circulating erythropoietin level ( J:185154 )

• similar to mutant mice wild-type for Tmprss6

• levels are higher in males than in females

immune system

abnormal spleen size ( J:185154 )

• reduced size compared to mutant mice wild-type for Tmprss6

Genotype
MGI:3036892

cx15

• Allelic Composition: Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

growth/size/body

decreased body weight ( J:30155 )

• F1 and F2 heterozygotes are significantly smaller

increased spleen weight ( J:30155 )

• the spleen weight to body weight ratio is significantly greater in heterozygotes

hematopoietic system

anemia ( J:88672 , 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)

• 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)

increased bone marrow cell number ( J:30155 )

• heterozygotes have increased bone marrow cellularity and increased numbers of megakaryocytes and erythroid precursors

decreased hematocrit ( J:30155 )

decreased hemoglobin content ( J:30155 )

• red blood cells are generally hypochromic

increased nucleated erythrocyte cell number ( J:30155 )

• nucleated red blood cells are found

reticulocytosis ( J:30155 )

• reticulocyte counts are increased 21-fold

abnormal spleen morphology ( J:88672 , 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)

• 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)

increased spleen weight ( J:30155 )

• the spleen weight to body weight ratio is significantly greater in heterozygotes

intermingled spleen red and white pulp ( J:30155 )

• there is no clear distinction between the red and white pulp

decreased spleen white pulp amount ( J:30155 )

• the white pulp is almost completely replaced by hematopoietic tissue

homeostasis/metabolism

increased circulating bilirubin level ( J:30155 )

• serum concentrations of total and indirect bilirubin are elevated in mice 6 to 7 weeks old

hemosiderosis ( J:88672 , J:30155 )

• hematopoietic stem cells from heterozygotes transfected with a large fragment of the human beta globin gene and injected back into the heterozygote reduced abnormal iron accumulations (J:88672)

• older (5-6 months) heterozygotes have iron accumulation in the proximal convoluted tubules of the kidney, and hepatocytes and Kupffer cells in the liver a sign of hemosiderosis (J:30155)

immune system

abnormal spleen morphology ( J:88672 , 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)

• 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)

increased spleen weight ( J:30155 )

• the spleen weight to body weight ratio is significantly greater in heterozygotes

intermingled spleen red and white pulp ( J:30155 )

• there is no clear distinction between the red and white pulp

decreased spleen white pulp amount ( J:30155 )

• the white pulp is almost completely replaced by hematopoietic tissue

limbs/digits/tail

abnormal femur morphology ( J:30155 )

• heterozygotes have a longer zone of proliferation and a shorter zone of osteogenesis

skeleton

abnormal femur morphology ( J:30155 )

• heterozygotes have a longer zone of proliferation and a shorter zone of osteogenesis

decreased compact bone thickness ( J:30155 )

integument

pallor ( J:30155 )

• heterozygotes are pale at birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:30155

Genotype
MGI:5441339

cx16

• Allelic Composition: Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

hematopoietic system

enlarged spleen ( J:185154 )

increased erythroid progenitor cell number ( J:185154 )

• increase in the proportion of immature erythroid progenitor cells in the spleen

abnormal erythrocyte morphology ( J:185154 )

abnormal erythropoiesis ( J:185154 )

• impaired

decreased erythrocyte cell number ( J:185154 )

• in males and females compared to sex and age matched littermates at 6 months of age

decreased hemoglobin content ( J:185154 )

• in males and females compared to sex and age matched littermates at 6 months of age

decreased mean corpuscular volume ( J:185154 )

• in males and females compared to sex and age matched littermates at 6 months of age

reticulocytosis ( J:185154 )

• increase in the percentage of reticulocytes

increased spleen iron level ( J:185154 )

• more severe in females than in males

homeostasis/metabolism

increased spleen iron level ( J:185154 )

• more severe in females than in males

increased circulating erythropoietin level ( J:185154 )

• remarkably high serum levels

• levels are higher in males than in females

increased liver iron level ( J:185154 )

• more severe in females than in males

liver/biliary system

increased liver iron level ( J:185154 )

• more severe in females than in males

immune system

enlarged spleen ( J:185154 )

increased spleen iron level ( J:185154 )

• more severe in females than in males

growth/size/body

enlarged spleen ( J:185154 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:185154