Phenotypes Associated with This Genotype

Genotype
MGI:2448454

• Allelic Composition: Spta1^sph-2Bc/Spta1^sph-2Bc
• Genetic Background: involves: SELH

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

mortality/aging

premature death ( J:7048 )

postnatal lethality, incomplete penetrance ( J:7048 )

• about one-fourth survive to weaning and one-third of these to 6 months

growth/size/body

enlarged spleen ( J:7048 )

• splenomegaly is seen in adults

hematopoietic system

extramedullary hematopoiesis ( J:7048 )

• extramedullary hematopoiesis in the liver

hemolytic anemia ( J:7048 )

• spherocytic, hemolytic anemia

increased bone marrow cell number ( J:7048 )

• erythroid hyperplasia in the bone marrow

erythroblastosis ( J:7048 )

abnormal erythrocyte morphology ( J:7048 , J:7501 )

• abnormal forms of red blood cells include spherocytes, schistocytes, anisocytes, poikilocytes, erythroblasts, stipple cells, and elliptocytes (J:7048)

• absence of alpha-spectrin in the red cell membrane skeleton (J:7501)

decreased hematocrit ( J:7048 )

• hematocrit is reduced by half

decreased hemoglobin content ( J:7048 )

• hemoglobin level is reduced by more than half

anisocytosis ( J:7048 )

poikilocytosis ( J:7048 )

schistocytosis ( J:7048 )

spherocytosis ( J:7048 )

increased leukocyte cell number ( J:7048 )

• increased in white blood cell count

reticulocytosis ( J:7048 )

• increase in reticulocyte count (90% vs. 5-10% in controls)

abnormal spleen morphology ( J:7048 )

• spleens are deep purple instead of red

enlarged spleen ( J:7048 )

• splenomegaly is seen in adults

increased erythrocyte osmotic fragility ( J:7048 )

• osmotic fragility is increased in red blood cells; red blood cells hemolyse at higher NaCl concentrations than controls

liver/biliary system

jaundice ( J:7048 )

• jaundice appears after birth

homeostasis/metabolism

increased circulating bilirubin level ( J:7048 )

• hyperbilirubinemia is seen as orange deposits in the liver and intestines

immune system

increased leukocyte cell number ( J:7048 )

• increased in white blood cell count

abnormal spleen morphology ( J:7048 )

• spleens are deep purple instead of red

enlarged spleen ( J:7048 )

• splenomegaly is seen in adults

integument

pallor ( J:7048 )

• mice are pale at birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spherocytosis type 1		DOID:0110916	OMIM:182900	J:7048 , J:7501
hereditary spherocytosis type 3		DOID:0110918	OMIM:270970	J:7048 , J:7501