Mouse Genome Informatics
hm
    Spta1sph-ha/Spta1sph-ha
involves: DBA/1J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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
• severe neonatal hypochromic microcytic anemia

reproductive system

cardiovascular system

immune system

liver/biliary system

skeleton
• bone marrow is hyperplastic

integument

Mouse Models of Human Disease
OMIM IDRef(s)
Spherocytosis, Type 1; SPH1 182900 J:14946 , J:30699
Spherocytosis, Type 3; SPH3 270970 J:14946 , J:30699