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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Spta1sph-ha
hemolytic anemia
MGI:1856181
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Spta1sph-ha/Spta1sph-ha either: (B6.D1-Spta1sph-ha x WB.D1-Spta1sph-ha)F1 or (WB.D1-Spta1sph-ha x B6.D1-Spta1sph-ha)F1 MGI:3766996
hm2
Spta1sph-ha/Spta1sph-ha involves: DBA/1J MGI:2448446
hm3
Spta1sph-ha/Spta1sph-ha (WB.D1-Spta1sph-ha/Brk x B6.D1-Spta1sph-ha/Brk)F1 MGI:4437304
ht4
Spta1sph-ha/Spta1+ either: (B6.D1-Spta1sph-ha x WB.D1-Spta1sph-ha)F1 or (WB.D1-Spta1sph-ha x B6.D1-Spta1sph-ha)F1 MGI:3767060
ht5
Spta1sph-ha/Spta1+ involves: DBA/1J MGI:4819187


Genotype
MGI:3766996
hm1
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 (147 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% of homozygotes die by 6 months of age

hematopoietic system
• accelerated erythropoiesis that is associated with distinctive, dark branched cells that make up large portions of the spleen and bone marrow stroma
• extramedullary hematopoiesis in the spleen and liver
• 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)
• 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 contains higher numbers of erythroblasts, proerythroblasts and basophilic erythroblasts
• hematocrit average of 21% compared to 45% in controls
• 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)
• increased numbers of circulating B lymphocytes
• increased numbers of circulating T cells
• 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
• decrease in percentage of lymphocytes in spleen; while control spleens consist of 85-90% lymphocytes, mutants spleens are only about 10-15% lymphocytes
• 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
• in clinically sick mutants
• in clinically sick mutants

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)
• increased numbers of circulating B lymphocytes
• increased numbers of circulating T cells
• 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
• decrease in percentage of lymphocytes in spleen; while control spleens consist of 85-90% lymphocytes, mutants spleens are only about 10-15% lymphocytes
• in clinically sick mutants
• in clinically sick mutants
• absolute increase in the number of proliferating lymphocytes in the lymph nodes
• mutants have a higher percentage of B cells and lower percentage of T cells in their lymph nodes
• lymph nodes are 3 times more cellular than wild-type (J:1967)
• alveolitis seen in clinically sick mutants
• 18 of 19 clinically sick homozygotes develop actue-to-chronic pneumonitis with variable severity
• 45% of clinically sick homozygotes develop bacteremia

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

homeostasis/metabolism
• red blood cell protoporphyrin levels are about 10 times higher than in controls (J:5985)
• chronic hyperbillirubinemia is seen in clinically sick mutants
• 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
• renal hemosiderosis is seen in clinically sick homozygotes

liver/biliary system
• in clinically sick mutants

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

cellular

growth/size/body

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sickle cell anemia DOID:10923 OMIM:603903
J:12830




Genotype
MGI:2448446
hm2
Allelic
Composition
Spta1sph-ha/Spta1sph-ha
Genetic
Background
involves: DBA/1J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spta1sph-ha mutation (2 available); any Spta1 mutation (147 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• many animals die within a few days of birth (J:24729)
• Background Sensitivity: most homozygotes die within the first week of life, but some survive to adulthood (J:24829)
• Background Sensitivity: a small percentage of homozygotes die in utero

pigmentation

hematopoietic system
• severe neonatal hypochromic microcytic anemia
• red blood cells are bizzare in shape and staining capacity
• newborns have a mean hematocrit of 26.4 compared with 38.8 in controls and adults have a mean hematocrit of 29.1 compared with 48.7 in controls
• newborns and adults have less than half the normal hemoglobin concentration
• significantly reduced in both newborn homozygotes and adults
• reticulocytes synthesize 6-fold and initially bind 5-fold greater than normal amounts of newly synthesized alpha spectrin, yet accumulate very little in the membrane skeleton

reproductive system

cardiovascular system

immune system

liver/biliary system

skeleton
• bone marrow is hyperplastic

integument

growth/size/body




Genotype
MGI:4437304
hm3
Allelic
Composition
Spta1sph-ha/Spta1sph-ha
Genetic
Background
(WB.D1-Spta1sph-ha/Brk x B6.D1-Spta1sph-ha/Brk)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spta1sph-ha mutation (2 available); any Spta1 mutation (147 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• approximately 35% die before weaning

hematopoietic system
• cell surface expression of phosphatidylserine is higher than in wild-type controls, with 11.6% of erythrocytes straining positive for phosphatidylserine versus 1.6% in wild-type controls
• less than half of normal numbers
• mean hematocrit is reduced to 26.5% from 50.4% in wild-type controls
• mean hemoglobin is decreased to 5.52 g/dL compared with 15.64 g/dL in wild-type controls
• MCV raised from 48.1 in wil-type controls to 61.6
• more than 3 times normal levels
• red blood cells exhibit a profound decrease in surface area and marked increase in osmotic fragility
• the percentage of erythroid cells that are microcytes is much larger than in wild-type controls
• mean percent of reticulocytes is substantially increased from 3.16% in wild-type controls to 93.2%
• sodium content of erythrocytes is elevated to 55.1 mEq/l from 12.4 mEq/l in wild-type controls, and the membrane cholesterol and phospholipid content is reduced
• average erythrocyte lifespan is approximately 1.1 days
• increased sensitivity to osmotic lysis

cardiovascular system

growth/size/body

homeostasis/metabolism
• 85% of homozygotes display cardiac thrombi

immune system

liver/biliary system
• although not jaundiced at birth, homozygotes develop severe jaundice within hours of being born

reproductive system




Genotype
MGI:3767060
ht4
Allelic
Composition
Spta1sph-ha/Spta1+
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 (147 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• red blood cells show a higher concentration of protoporphyrin than wild-type

homeostasis/metabolism
• red blood cells show a higher concentration of protoporphyrin than wild-type




Genotype
MGI:4819187
ht5
Allelic
Composition
Spta1sph-ha/Spta1+
Genetic
Background
involves: DBA/1J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spta1sph-ha mutation (2 available); any Spta1 mutation (147 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• although erythrocytes are nearly normal in size and hemoglobin concentration, the survival time of erythrocytes in heterozygotes is reduced to 16 days compared with 24 days in controls





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory