Phenotypes Associated with This Genotype

Genotype
MGI:4453797

• Allelic Composition: Hba-a1^tm1Ywk/Hba^th-J
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:35018 )

• mutants do not survive as newborns

growth/size/body

decreased fetal size ( J:35018 )

• at E19.5, mutant fetuses are smaller than control fetuses

hematopoietic system

hemolytic anemia ( J:35018 )

• at E17.5, mutant fetuses display severe hemolytic anemia

abnormal erythrocyte morphology ( J:35018 )

• at E17.5, mutant erythrocytees display notable anisocytosis, poikilocytosis, polychromasia, and targeting, characteristic of severe thalassemia

• virtually all mutant erythrocytes exhibit hemoglobin H inclusions

abnormal hemoglobin ( J:35018 )

• at E17.5, hemoglobin H (beta4) is the major component constituting 55%-65% of total hemoglobin, as shown by isoelectric focusing electrophoresis

anisocytosis ( J:35018 )

leptocytosis ( J:35018 )

poikilocytosis ( J:35018 )

polychromatophilia ( J:35018 )

reticulocytosis ( J:35018 )

• at E17.5, mutant fetuses exhibit very high reticulocyte counts

integument

pallor ( J:35018 )

• at E19.5, mutant fetuses are paler than control fetuses

Mouse Models of Human Disease		OMIM ID	Ref(s)
Hemoglobin--Alpha Locus 1; HBA1		141800	J:35018