Phenotypes Associated with This Genotype

Genotype
MGI:3843172

• Allelic Composition: Hbb^{tm1.1(HBG1,HBB*)Ryan}/Hbb⁺
• Genetic Background: involves: C57BL/6J

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

Hbb^{tm1.1(HBG1,HBB*)Ryan}/Hbb⁺ mice have a severe Beta Thalassemic phenotype

hematopoietic system

extramedullary hematopoiesis ( J:147906 )

microcytic anemia ( J:147906 )

• seen in adults

• results in the release of nascent macrocytic red blood cells and reticulocytes into circulation

increased erythroid progenitor cell number ( J:147906 )

• enlarged femoral bone marrow cavities are filled with erythroid progenitors

decreased erythrocyte cell number ( J:147906 )

increased hemoglobin concentration distribution width ( J:147906 )

• the red cell distribution width is double that of controls

decreased mean corpuscular hemoglobin ( J:147906 )

decreased mean corpuscular hemoglobin concentration ( J:147906 )

decreased mean corpuscular volume ( J:147906 )

anisopoikilocytosis ( J:147906 )

• numerous targeted and hypochromic red cells are present

reticulocytosis ( J:147906 )

• about a 9 fold increase in reticulocyte counts

abnormal spleen morphology ( J:147906 )

enlarged spleen ( J:147906 )

• 6 fold increase in size, as a percentage of body weight

increased spleen iron level ( J:147906 )

• destruction of erythroid cells leads to increased deposition of iron in the spleen

increased spleen red pulp amount ( J:147906 )

intermingled spleen red and white pulp ( J:147906 )

• splenic architecture is disrupted by the expansion of the red pulp

skeleton

abnormal bone marrow cavity morphology ( J:147906 )

• enlarged femoral bone marrow cavity

homeostasis/metabolism

abnormal iron level ( J:147906 )

• destruction of erythroid cells leads to increased deposition of iron in the bone marrow

increased spleen iron level ( J:147906 )

• destruction of erythroid cells leads to increased deposition of iron in the spleen

increased liver iron level ( J:147906 )

• destruction of erythroid cells leads to increased deposition of iron in the liver

liver/biliary system

increased liver iron level ( J:147906 )

• destruction of erythroid cells leads to increased deposition of iron in the liver

immune system

abnormal spleen morphology ( J:147906 )

enlarged spleen ( J:147906 )

• 6 fold increase in size, as a percentage of body weight

increased spleen iron level ( J:147906 )

• destruction of erythroid cells leads to increased deposition of iron in the spleen

increased spleen red pulp amount ( J:147906 )

intermingled spleen red and white pulp ( J:147906 )

• splenic architecture is disrupted by the expansion of the red pulp

growth/size/body

enlarged spleen ( J:147906 )

• 6 fold increase in size, as a percentage of body weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:147906