All Phenotypes Hbb<tm2(HBG1,HBB*)Tow> MGI Mouse

Phenotypes associated with this allele

Allelic Composition	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB)Tow}/Hbb^{tm2(HBG1,HBB)Tow} Slc12a4^Rbc10/Slc12a4^Rbc10
Genetic Background	involves: 129 * BALB/c * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hba^tm1(HBA)Tow mutation (3 available); any Hba mutation (10 available)
Hbb^{tm2(HBG1,HBB*)Tow} mutation (3 available); any Hbb mutation (47 available)
Slc12a4^Rbc10 mutation (1 available); any Slc12a4 mutation (55 available)

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

mortality/aging

premature death ( J:227339 )

• only 1 mouse survived to 10 weeks of age

preweaning lethality, incomplete penetrance ( J:227339 )

• fewer than expected at 10 days of age

Allelic Composition	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB)Tow}/Hbb^{tm2(HBG1,HBB)Tow} Slc12a4^Rbc10/Slc12a4⁺
Genetic Background	involves: 129 * BALB/c * C57BL/6J

Find Mice

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

mortality/aging

premature death ( J:227339 )

• decreased survival compared to sickle mice wild-type for Slc12a4

hematopoietic system

enlarged spleen ( J:227339 )

• compared to sickle mice wild-type for Slc12a4

microcytic anemia ( J:227339 )

• increased anemia compared to mutant mice wild-type for Slc12a4

reticulocytosis ( J:227339 )

• increased compared to sickle mice wild-type for Slc12a4

abnormal erythrocyte physiology ( J:227339 )

• increase in ⁸⁶Rb efflux

• increased red cell density

liver/biliary system

liver inflammation ( J:227339 )

• marked lobular inflammation

abnormal liver morphology ( J:227339 )

• numerous sickle cells are seen in the sinusoids

hepatic necrosis ( J:227339 )

• centrilobular necrosis and congestion

cardiovascular system

abnormal pulmonary circulation ( J:227339 )

• increased intra-alveolar leakage of red cells

renal/urinary system

increased mesangial cell number ( J:227339 )

• mesangial proliferation

abnormal renal tubule morphology ( J:227339 )

• increase in the number of red cells in the tubules

respiratory system

abnormal pulmonary circulation ( J:227339 )

• increased intra-alveolar leakage of red cells

abnormal lung morphology ( J:227339 )

• increased interstitial congestion

immune system

enlarged spleen ( J:227339 )

• compared to sickle mice wild-type for Slc12a4

liver inflammation ( J:227339 )

• marked lobular inflammation

cellular

increased mesangial cell number ( J:227339 )

• mesangial proliferation

hepatic necrosis ( J:227339 )

• centrilobular necrosis and congestion

growth/size/body

enlarged spleen ( J:227339 )

• compared to sickle mice wild-type for Slc12a4

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sickle cell anemia		DOID:10923	OMIM:603903	J:227339

Allelic Composition	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB*)Tow}/Hbb^{tm3(HBG1,HBB)Tow} Slc12a4^Rbc10/Slc12a4^Rbc10
Genetic Background	involves: 129 * BALB/c * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hba^tm1(HBA)Tow mutation (3 available); any Hba mutation (10 available)
Hbb^{tm2(HBG1,HBB*)Tow} mutation (3 available); any Hbb mutation (47 available)
Hbb^{tm3(HBG1,HBB)Tow} mutation (3 available); any Hbb mutation (47 available)
Slc12a4^Rbc10 mutation (1 available); any Slc12a4 mutation (55 available)

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

hematopoietic system

microcytic anemia ( J:227339 )

• increased anemia compared to mutant mice wild-type for Slc12a4

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

hematopoietic system

abnormal Kupffer cell morphology ( J:134980 )

• abundant hemosiderin deposits

spleen vascular congestion ( J:134980 )

• pooling of sinusoidal erythrocytes and vasoocclusion of splenic vessels

enlarged spleen ( J:134980 )

extramedullary hematopoiesis ( J:134980 )

• erythroid progenitors are present in the hepatic sinusoids

anemia ( J:137709 )

• slightly thalassemic

abnormal erythrocyte morphology ( J:134980 )

decreased erythrocyte cell number ( J:134980 )

decreased hematocrit ( J:134980 )

decreased hemoglobin content ( J:134980 )

anisocytosis ( J:134980 )

poikilocytosis ( J:134980 )

• many rigid elongated cells are seen in blood smears

polychromatophilia ( J:134980 )

reticulocytosis ( J:134980 )

increased spleen red pulp amount ( J:134980 )

• massive expansion of the red pulp

abnormal spleen white pulp morphology ( J:134980 )

• complete loss of lymphoid follicular structure

liver/biliary system

abnormal liver morphology ( J:134980 )

• pronounced congestion of intrahepatic vessels and aggregates of sickled red blood cells

abnormal Kupffer cell morphology ( J:134980 )

• abundant hemosiderin deposits

liver vascular congestion ( J:134980 )

• pronounced congestion of intrahepatic vessels

focal hepatic necrosis ( J:134980 )

increased liver iron level ( J:134980 )

• abundant hemosiderin deposits in the Kupffer cells

renal/urinary system

kidney vascular congestion ( J:134980 )

• engorgement and occlusion of renal blood vessels

• occlusion is most obvious at the corticomedullary junctions where dilated capillaries are easily detected

decreased urine osmolality ( J:134980 )

abnormal kidney corticomedullary boundary morphology ( J:134980 )

• occlusion is most obvious at the corticomedullary junctions where dilated capillaries are easily detected

cardiovascular system

kidney vascular congestion ( J:134980 )

• engorgement and occlusion of renal blood vessels

• occlusion is most obvious at the corticomedullary junctions where dilated capillaries are easily detected

abnormal Kupffer cell morphology ( J:134980 )

• abundant hemosiderin deposits

liver vascular congestion ( J:134980 )

• pronounced congestion of intrahepatic vessels

spleen vascular congestion ( J:134980 )

• pooling of sinusoidal erythrocytes and vasoocclusion of splenic vessels

homeostasis/metabolism

increased liver iron level ( J:134980 )

• abundant hemosiderin deposits in the Kupffer cells

decreased urine osmolality ( J:134980 )

immune system

abnormal Kupffer cell morphology ( J:134980 )

• abundant hemosiderin deposits

spleen vascular congestion ( J:134980 )

• pooling of sinusoidal erythrocytes and vasoocclusion of splenic vessels

enlarged spleen ( J:134980 )

increased spleen red pulp amount ( J:134980 )

• massive expansion of the red pulp

abnormal spleen white pulp morphology ( J:134980 )

• complete loss of lymphoid follicular structure

cellular

focal hepatic necrosis ( J:134980 )

growth/size/body

enlarged spleen ( J:134980 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sickle cell anemia		DOID:10923	OMIM:603903	J:134980

Allelic Composition	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB*)Tow}/Hbb^{tm3(HBG1,HBB)Tow}
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hba^tm1(HBA)Tow mutation (3 available); any Hba mutation (10 available)
Hbb^{tm2(HBG1,HBB*)Tow} mutation (3 available); any Hbb mutation (47 available)
Hbb^{tm3(HBG1,HBB)Tow} mutation (3 available); any Hbb mutation (47 available)

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

hematopoietic system

hematopoietic system phenotype ( J:134980 )

N	• red blood cell morphology, hematological parameters, and spleen size and morphology are all similar to controls and no extramedullary hematopoiesis is detected unlike mice homozygous for Hbb^{tm2(HBG1,HBB*)Tow}

anemia ( J:137709 )

• slightly thalassemic

liver/biliary system

liver/biliary system phenotype ( J:134980 )

N	• liver morphology is similar to controls

renal/urinary system

renal/urinary system phenotype ( J:134980 )

N	• kidney morphology and physiology are similar to controls

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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