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Phenotypes Associated with This Genotype
Genotype
MGI:3767061
Allelic
Composition
Spta1sph/Spta1sph
Genetic
Background
either: (B6.C3-Spta1sph x WB.C3-Spta1sph)F1 or (WB.C3-Spta1sph x B6.C3-Spta1sph)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spta1sph mutation (2 available); any Spta1 mutation (147 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• accelerated erythropoiesis that is associated with distinctive, dark branched cells that make up large portions of the spleen and bone marrow stroma
• 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
• bone marrow is hypercellular with very high erythrocyte numbers
• bone marrow contains higher numbers of erythroblasts, proerythroblasts and basophilic erythroblasts
• hematocrit average of 15% compared to 45% in controls
• 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)
• 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
• 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
• 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
• homozygotes are resistant to the malarial parasites, Plasmodium chabaudi adami and Plasmodium berghei

homeostasis/metabolism
• 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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory