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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Spta1sph-2Bc
spherocytosis 2 British Columbia
MGI:1856180
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Spta1sph-2Bc/Spta1sph-2Bc involves: SELH MGI:2448454
hm2
Spta1sph-2Bc/Spta1sph-2Bc (WB.Cg-Spta1sph-2Bc/Brk x B6.Cg-Spta1sph-2Bc/Brk)F1 MGI:4437303


Genotype
MGI:2448454
hm1
Allelic
Composition
Spta1sph-2Bc/Spta1sph-2Bc
Genetic
Background
involves: SELH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spta1sph-2Bc mutation (2 available); any Spta1 mutation (86 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about one-fourth survive to weaning and one-third of these to 6 months

growth/size/body
• splenomegaly is seen in adults

hematopoietic system
• extramedullary hematopoiesis in the liver
• spherocytic, hemolytic anemia
• erythroid hyperplasia in the bone marrow
• 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)
• hematocrit is reduced by half
• hemoglobin level is reduced by more than half
• increased in white blood cell count
• increase in reticulocyte count (90% vs. 5-10% in controls)
• spleens are deep purple instead of red
• splenomegaly is seen in adults
• osmotic fragility is increased in red blood cells; red blood cells hemolyse at higher NaCl concentrations than controls

liver/biliary system
• jaundice appears after birth

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

immune system
• increased in white blood cell count
• spleens are deep purple instead of red
• splenomegaly is seen in adults

integument
• mice are pale at birth




Genotype
MGI:4437303
hm2
Allelic
Composition
Spta1sph-2Bc/Spta1sph-2Bc
Genetic
Background
(WB.Cg-Spta1sph-2Bc/Brk x B6.Cg-Spta1sph-2Bc/Brk)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spta1sph-2Bc mutation (2 available); any Spta1 mutation (86 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• cell surface expression of phosphatidylserine is higher than in wild-type controls but not as high as in other hemolytic anemia mutants, with 4.9% of erythrocytes straining positive for phosphatidylserine versus 1.6% in wild-type controls
• 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 larger than in wild-type controls

homeostasis/metabolism
• 100% of homozygous adults display cardiac thrombi





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
08/03/2022
MGI 6.21
The Jackson Laboratory