Mouse Genome Informatics
hm
    Sptbja/Sptbja
129/Sv-Sptbja
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most homozygotes die within a day or two of birth, but a few survive to adulthood
• incomplete penetrance

cardiovascular system
• evident at E15

hematopoietic system
• evident as early as E15; about half the normal number of red cells are present
• there is considerable erythrocyte destruction and a compensating release of immature blood cells into the circulation
• spectrin does not accumulate in the reticulocyte plasma membrane
• evident at E15

immune system
• evident at E15

liver/biliary system
• evident at P2
• evident at P2
• developed within hours after birth

Mouse Models of Human Disease
OMIM IDRef(s)
Spectrin, Beta, Erythrocytic; SPTB 182870 J:305 , J:7501 , J:44313