Mouse Genome Informatics
hm1
    Hbab3(th)/Hbab3(th)
SEC-Hbab3(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 most 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/body
• at 86h post mating most 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
    Hbab3(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 cells with flattened or doughnut (34.5%) shape compared to controls
• red cells are 75 - 80% the size of wild-type cells
• increase in the percentage of acanthocytes or cells with teardrop shape (6.2%) compared to controls

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


Mouse Genome Informatics
ht3
    Hbab3(th)/Hba+
involves: 101 * SEC
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


Mouse Genome Informatics
ht4
    Hbab3(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 (9% compared to the expected 50%)

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


Mouse Genome Informatics
ht5
    Hbab3(th)/Hba+
SEC-Hbab3(th)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• many pups die between birth and weaning

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/body
• newborn pups are smaller than wild-type littermates
• reduced in heterozygous adults to 18.77 +/- 0.59g compared to 23.79 +/- 0.39g in wild-type mice

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