Mouse Genome Informatics
cx
    Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Tg(HBA-HBBs)41Paz/?

involves: 129S2/SvPas * 129S7/SvEvBrd * Black Swiss * C57BL/6 * DBA/2* FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• many pups turn purple and die within a few hours of birth, however, mice that survive live to become adults (reaching at least 7 months of age)

hematopoietic system
• congested sinusoidal channels are observed in spleen
• erythrocytes have increased dynamic rigidity
• average hematocrit levels are 65% of control at 3-7 months of age
• erythrocytes contain an excess of alpha globin chain synthesis
• sickle cell shapes are observed at a frequency of 5-10% in oxygenated blood
• reticulocyte counts are elevated at 3-7 months of age
• weight is increased 13-fold as compared to control
• erythrocytes have decreased osmotic fragility

homeostasis/metabolism
• cause of death in some newborn mice
• iron deposits found in the tubular epithelium of the kidney
• iron deposits found in Kupffer cells of liver

cardiovascular system
• congested sinusoidal channels are observed in spleen
• weight is increased 2-fold as compared to control

renal/urinary system
• iron deposits found in the tubular epithelium of the kidney
• weight is increased 2-fold as compared to control

immune system
• congested sinusoidal channels are observed in spleen
• weight is increased 13-fold as compared to control

liver/biliary system
• iron deposits found in Kupffer cells of liver

respiratory system

Mouse Models of Human Disease
OMIM IDRef(s)
Sickle Cell Anemia 603903 J:44161