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Phenotypes Associated with This Genotype
Genotype
MGI:3766996
Allelic
Composition
Spta1sph-ha/Spta1sph-ha
Genetic
Background
either:(B6.D1-Spta1sph-ha x WB.D1-Spta1sph-ha)F1 or (WB.D1-Spta1sph-ha x B6.D1-Spta1sph-ha)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spta1sph-ha mutation (2 available); any Spta1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% of homozygotes die by 6 months of age (J:12830)
• 50% of homozygotes die by 6 months of age (J:12830)

hematopoietic system
• accelerated erythropoiesis that is associated with distinctive, dark branched cells that make up large portions of the spleen and bone marrow stroma (J:6695)
• accelerated erythropoiesis that is associated with distinctive, dark branched cells that make up large portions of the spleen and bone marrow stroma (J:6695)
• extramedullary hematopoiesis in the spleen and liver (J:12830)
• extramedullary hematopoiesis in the spleen and liver (J:12830)
• chronic hemolytic anemia (J:1967)
• chronic hemolytic anemia (J:1967)
• erythroid hyperplasia in the bone marrow (J:1967)
• mean percentage of sIgM+ and B220+ cells is significantly lower in the bone marrow, indicating fewer B lineage lymphocytes in the marrow (J:1967)
• rate of proliferation of large lymphocytes is retarded in the bone marrow (J:1967)
• erythroid hyperplasia in the bone marrow (J:1967)
• mean percentage of sIgM+ and B220+ cells is significantly lower in the bone marrow, indicating fewer B lineage lymphocytes in the marrow (J:1967)
• rate of proliferation of large lymphocytes is retarded in the bone marrow (J:1967)
• granuloid:erythroid ratio is 1:2 compared to 3:1 in controls or 1:1 in bled controls (J:6695)
• CFU-E concentrations in bone marrow are significantly increased over those in wild-type, while BFU-E concentrations are halved (J:6695)
• granuloid:erythroid ratio is 1:2 compared to 3:1 in controls or 1:1 in bled controls (J:6695)
• CFU-E concentrations in bone marrow are significantly increased over those in wild-type, while BFU-E concentrations are halved (J:6695)
• bone marrow is hypercellular with very high erythrocyte numbers (J:6695)
• bone marrow is hypercellular with very high erythrocyte numbers (J:6695)
• bone marrow contains higher numbers of erythroblasts, proerythroblasts and basophilic erythroblasts (J:6695)
• bone marrow contains higher numbers of erythroblasts, proerythroblasts and basophilic erythroblasts (J:6695)
• hematocrit average of 21% compared to 45% in controls (J:6695)
• hematocrit average of 21% compared to 45% in controls (J:6695)
• red blood cell protoporphyrin levels are about 10 times higher than in controls (J:5985)
• red blood cell protoporphyrin levels are about 10 times higher than in controls (J:5985)
• significant increase in CD4+, CD8+, and sIgM+ lymphocytes in peripheral blood (J:1967)
• lymphoid expansion is due to redistribution of lymphocytes from the spleen to other peripheral lymphoid tissues as well as increased proliferation of T and B lymphocytes in lymph nodes (J:1967)
• significant increase in CD4+, CD8+, and sIgM+ lymphocytes in peripheral blood (J:1967)
• lymphoid expansion is due to redistribution of lymphocytes from the spleen to other peripheral lymphoid tissues as well as increased proliferation of T and B lymphocytes in lymph nodes (J:1967)
• increased numbers of circulating B lymphocytes (J:1967)
• increased numbers of circulating B lymphocytes (J:1967)
• increased numbers of circulating T cells (J:1967)
• increased numbers of circulating T cells (J:1967)
• 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 (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 (J:6695)
• decrease in percentage of lymphocytes in spleen; while control spleens consist of 85-90% lymphocytes, mutants spleens are only about 10-15% lymphocytes (J:1967)
• decrease in percentage of lymphocytes in spleen; while control spleens consist of 85-90% lymphocytes, mutants spleens are only about 10-15% lymphocytes (J:1967)
• 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 (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 (J:30033)
• in clinically sick mutants (J:12830)
• in clinically sick mutants (J:12830)
• in clinically sick mutants (J:12830)
• in clinically sick mutants (J:12830)

immune system
• significant increase in CD4+, CD8+, and sIgM+ lymphocytes in peripheral blood (J:1967)
• lymphoid expansion is due to redistribution of lymphocytes from the spleen to other peripheral lymphoid tissues as well as increased proliferation of T and B lymphocytes in lymph nodes (J:1967)
• significant increase in CD4+, CD8+, and sIgM+ lymphocytes in peripheral blood (J:1967)
• lymphoid expansion is due to redistribution of lymphocytes from the spleen to other peripheral lymphoid tissues as well as increased proliferation of T and B lymphocytes in lymph nodes (J:1967)
• increased numbers of circulating B lymphocytes (J:1967)
• increased numbers of circulating B lymphocytes (J:1967)
• increased numbers of circulating T cells (J:1967)
• increased numbers of circulating T cells (J:1967)
• 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 (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 (J:6695)
• decrease in percentage of lymphocytes in spleen; while control spleens consist of 85-90% lymphocytes, mutants spleens are only about 10-15% lymphocytes (J:1967)
• decrease in percentage of lymphocytes in spleen; while control spleens consist of 85-90% lymphocytes, mutants spleens are only about 10-15% lymphocytes (J:1967)
• in clinically sick mutants (J:12830)
• in clinically sick mutants (J:12830)
• in clinically sick mutants (J:12830)
• in clinically sick mutants (J:12830)
• absolute increase in the number of proliferating lymphocytes in the lymph nodes (J:1967)
• mutants have a higher percentage of B cells and lower percentage of T cells in their lymph nodes (J:1967)
• absolute increase in the number of proliferating lymphocytes in the lymph nodes (J:1967)
• mutants have a higher percentage of B cells and lower percentage of T cells in their lymph nodes (J:1967)
• lymph nodes are 3 times more cellular than wild-type (J:1967)
• lymph nodes are 3 times more cellular than wild-type (J:1967)
• alveolitis seen in clinically sick mutants (J:12830)
• alveolitis seen in clinically sick mutants (J:12830)
• 18 of 19 clinically sick homozygotes develop actue-to-chronic pneumonitis with variable severity (J:12830)
• 18 of 19 clinically sick homozygotes develop actue-to-chronic pneumonitis with variable severity (J:12830)
• 45% of clinically sick homozygotes develop bacteremia (J:12830)
• 45% of clinically sick homozygotes develop bacteremia (J:12830)

cardiovascular system
• 18 of 19 clinically sick mutants develop acute vaso-occlusive disease (J:12830)
• 14 of 20 clinically sick homozygotes exhibit myocardial infarction or thrombosis (J:12830)
• 5 of 20 clinically sick homozygotes exhibit splenic infraction (J:12830)
• 8 of 20 clinically sick homozygotes exhibit either liver, bone marrow, pancreas or skeletal muscle infarction (J:12830)
• 18 of 19 clinically sick mutants develop acute vaso-occlusive disease (J:12830)
• 14 of 20 clinically sick homozygotes exhibit myocardial infarction or thrombosis (J:12830)
• 5 of 20 clinically sick homozygotes exhibit splenic infraction (J:12830)
• 8 of 20 clinically sick homozygotes exhibit either liver, bone marrow, pancreas or skeletal muscle infarction (J:12830)

homeostasis/metabolism
• red blood cell protoporphyrin levels are about 10 times higher than in controls (J:5985)
• red blood cell protoporphyrin levels are about 10 times higher than in controls (J:5985)
• chronic hyperbillirubinemia is seen in clinically sick mutants (J:12830)
• chronic hyperbillirubinemia is seen in clinically sick mutants (J:12830)
• 80% of homozygotes show evidence of thrombosis in venules and small-to-medium-sized veins, with ischemic tissue damage in one or more organs, including spleen, myocardium, pancreas, and bone marrow (J:12830)
• 80% of homozygotes show evidence of thrombosis in venules and small-to-medium-sized veins, with ischemic tissue damage in one or more organs, including spleen, myocardium, pancreas, and bone marrow (J:12830)
• renal hemosiderosis is seen in clinically sick homozygotes (J:12830)
• renal hemosiderosis is seen in clinically sick homozygotes (J:12830)

liver/biliary system
• in clinically sick mutants (J:12830)
• in clinically sick mutants (J:12830)

respiratory system
• alveolitis seen in clinically sick mutants (J:12830)
• alveolitis seen in clinically sick mutants (J:12830)
• 18 of 19 clinically sick homozygotes develop actue-to-chronic pneumonitis with variable severity (J:12830)
• 18 of 19 clinically sick homozygotes develop actue-to-chronic pneumonitis with variable severity (J:12830)
• 95% of clinically sick homozygotes exhibit lung lesions, ranging from increased cellularity, alveolar wall thickening, exudative pneumonitis and alveolitis, and pulmonary fibrosis (J:12830)
• 95% of clinically sick homozygotes exhibit lung lesions, ranging from increased cellularity, alveolar wall thickening, exudative pneumonitis and alveolitis, and pulmonary fibrosis (J:12830)
• alveolar wall thickening seen in clinically sick mutants (J:12830)
• alveolar wall thickening seen in clinically sick mutants (J:12830)
• seen in clinically sick mutants (J:12830)
• seen in clinically sick mutants (J:12830)

Mouse Models of Human Disease
OMIM ID Ref(s)
Sickle Cell Anemia 603903 J:12830


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory