Mouse Genome Informatics
hm1
    Hbab2(th)/Hbab2(th)
SEC-Hbab2(th)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most embryos appear to die between E.5. and E6.5

embryogenesis
• at E5.5 some embryos remain in the late blastocyst stage and these have pycnotic cells in the trophectoderm
• at 86h post mating many homozygous embryos are still in the morula stage while wild-type littermates have reached the blastocyst stage
• at E5.5 some embryos remain in the late blastocyst stage and these have pycnotic cells in the trophectoderm

growth/size
• at 86h post mating many homozygous embryos are still in the morula stage while wild-type littermates have reached the blastocyst stage
• at E5.5 some embryos remain in the late blastocyst stage and these have pycnotic cells in the trophectoderm


Mouse Genome Informatics
ht2
    Hbab2(th)/Hba+
either: (involves: 101 * SEC) or (involves: 101 * C57BL * SEC)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• reduced mean cell volume despite increased red cell numbers
• red cells of irregular size and shape with pitted surfaces and blebs are seen
• increase in the percentage of red blood cells with flattened or doughnut shape (26%) compared to controls
• red cells are 75 - 80% the size of wild-type cells
• increase in the percentage of acanthocytes and red blood cells with teardrop shape (43.2%) compared to controls
• Background Sensitivity: white cell numbers are increased in mice crossed to C57BL mice but not in those crossed to SEC mice

immune system
• Background Sensitivity: white cell numbers are increased in mice crossed to C57BL mice but not in those crossed to SEC mice

Mouse Models of Human Disease
OMIM IDRef(s)
Alpha-Thalassemia 604131 J:123943


Mouse Genome Informatics
ht3
    Hbab2(th)/Hba+
involves: 101/Rl * SEC/Rl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• display a diminished fast band, higher than normal solubility, and precipitates containing few, large, found aggregates of crystals
• chromium labelled erythrocytes transplanted from heterozygous males into wild-type hosts have a half-life of only 10.3 days whereas that from normal donors into normal hosts is 12.7 days
• the calculated lifespan of transplanted heterozygous erythrocytes is shorter than of transplanted normal erythrocytes

mortality/aging
• the mean age of death is less than normal


Mouse Genome Informatics
ht4
    Hbab2(th)/Hba+
involves: C57BL6J * SEC
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• fewer than expected heterozygous mice are found at weaning (37% compared to the expected 50%)

Mouse Models of Human Disease
OMIM IDRef(s)
Alpha-Thalassemia 604131 J:32654


Mouse Genome Informatics
ht5
    Hbab2(th)/Hba+
SEC-Hbab2(th)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• at E13.5 - E15.5, eosinophilic inclusions are seen in liver derived erythrocytes
• however, no abnormalities are seen in yolk-sac derived nucleated erythrocytes

growth/size
N
• unlike mice heterozygous for SEC-Hbab3(th), body weights of heterozygous mice are similar to control littermates (J:6452)

Mouse Models of Human Disease
OMIM IDRef(s)
Alpha-Thalassemia 604131 J:6452