Phenotypes Associated with This Genotype

Genotype
MGI:3767061

• Allelic Composition: Spta1^sph/Spta1^sph
• Genetic Background: either: (B6.C3-Spta1^sph x WB.C3-Spta1^sph)F1 or (WB.C3-Spta1^sph x B6.C3-Spta1^sph)F1

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

hematopoietic system

abnormal erythropoiesis ( J:6695 )

• accelerated erythropoiesis that is associated with distinctive, dark branched cells that make up large portions of the spleen and bone marrow stroma

hemolytic anemia ( J:6695 )

abnormal bone marrow cell number ( J:6695 )

• granuloid:erythroid ratio is 1:3 compared to 3:1 in controls or 1:1 in bled controls

• CFU-E concentrations in bone marrow are significantly increased over those in wild-type, while BFU-E concentrations are halved

increased bone marrow cell number ( J:6695 )

• bone marrow is hypercellular with very high erythrocyte numbers

increased erythroid progenitor cell number ( J:6695 )

• bone marrow contains higher numbers of erythroblasts, proerythroblasts and basophilic erythroblasts

decreased hematocrit ( J:6695 )

• hematocrit average of 15% compared to 45% in controls

increased erythrocyte protoporphyrin level ( J:5985 , J:111131 )

• red blood cell protoporphyrin levels are about 10 times higher than in controls (J:5985)

• scanning electron microscopy of erythrocytes shows that they have an abnormal shape with disappearance of biconcavity, smaller diameter, and the appearance of exovesiculation (J:111131)

• Percoll-stractan gradients show a considerable increase in erythrocyte density (J:111131)

macrocytosis ( J:6695 )

microcytosis ( J:6695 )

spherocytosis ( J:6695 )

reticulocytosis ( J:6695 )

abnormal spleen morphology ( J:6695 )

• the spleen is extremely erythropoietic and eryhtroclastic, with sheets of erythroblasts associated with dark branching cells alternating with areas filled with macrophages and red cell debris

enlarged spleen ( J:6695 )

abnormal erythrocyte physiology ( J:30033 )

• erythrocyte intracellular sodium levels are three times higher than normal, erythrocyte intracellular potassium levels are lower than normal, and ouabain induced cation flux rates in erythrocytes are approximately three times higher than normal

immune system

abnormal spleen morphology ( J:6695 )

• the spleen is extremely erythropoietic and eryhtroclastic, with sheets of erythroblasts associated with dark branching cells alternating with areas filled with macrophages and red cell debris

enlarged spleen ( J:6695 )

decreased susceptibility to parasitic infection ( J:111131 )

• homozygotes are resistant to the malarial parasites, Plasmodium chabaudi adami and Plasmodium berghei

homeostasis/metabolism

increased erythrocyte protoporphyrin level ( J:5985 , J:111131 )

• red blood cell protoporphyrin levels are about 10 times higher than in controls (J:5985)

• scanning electron microscopy of erythrocytes shows that they have an abnormal shape with disappearance of biconcavity, smaller diameter, and the appearance of exovesiculation (J:111131)

• Percoll-stractan gradients show a considerable increase in erythrocyte density (J:111131)

growth/size/body

enlarged spleen ( J:6695 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spherocytosis type 3		DOID:0110918	OMIM:270970	J:6695