Mouse Genome Informatics
hm
    Spta1sph-2Bc/Spta1sph-2Bc
involves: SELH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• about one-fourth survive to weaning and one-third of these to 6 months

hematopoietic system
• 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
• spherocytic, hemolytic anemia
• increase in reticulocyte count (90% vs. 5-10% in controls)
• increased in white blood cell count
• extramedullary hematopoiesis in the liver
• erythroid hyperplasia in the bone marrow
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Spherocytosis, Type 1; SPH1 182900 J:7048 , J:7501
Spherocytosis, Type 3; SPH3 270970 J:7048 , J:7501