Phenotypes associated with this allele

• Allele Symbol: Hbb^{tm2(HBG1,HBB*)Tow}
• Allele Name: targeted mutation 2, Timothy Townes
• Allele ID: MGI:3790753
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^tm2(HBG1,HBB*)Tow/Hbb^tm2(HBG1,HBB*)Tow Slc12a4^Rbc10/Slc12a4^Rbc10	involves: 129 * BALB/c * C57BL/6J	MGI:5896636
cx2	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^tm2(HBG1,HBB*)Tow/Hbb^tm2(HBG1,HBB*)Tow Slc12a4^Rbc10/Slc12a4^+	involves: 129 * BALB/c * C57BL/6J	MGI:5896637
cx3	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^tm2(HBG1,HBB*)Tow/Hbb^tm3(HBG1,HBB)Tow Slc12a4^Rbc10/Slc12a4^Rbc10	involves: 129 * BALB/c * C57BL/6J	MGI:5896638
cx4	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^tm2(HBG1,HBB*)Tow/Hbb^tm2(HBG1,HBB*)Tow	Not Specified	MGI:3803707
cx5	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^tm2(HBG1,HBB*)Tow/Hbb^tm3(HBG1,HBB)Tow	Not Specified	MGI:3803708

Genotype
MGI:5896636

cx1

• 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

• ♀: 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

Genotype
MGI:5896637

cx2

• 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

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

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		J:227339

Genotype
MGI:5896638

cx3

• 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

hematopoietic system

microcytic anemia ( J:227339 )

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

Genotype
MGI:3803707

cx4

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

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

increased liver iron level ( J:134980 )

• abundant hemosiderin deposits in the Kupffer cells

focal hepatic necrosis ( J:134980 )

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

growth/size/body

enlarged spleen ( J:134980 )

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

Genotype
MGI:3803708

cx5

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

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