Phenotypes Associated with This Genotype

Genotype
MGI:3803707

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

• ♀: 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