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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hbath-J
alpha thalassemia Jackson
MGI:1858115
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hbath-J/Hbath-J involves: C57BL/6J MGI:3841991
ht2
Hbath-J/Hba+ B6.Cg-Hbath-J MGI:4355965
ht3
Hbath-J/Hba+ involves: C57BL/6J MGI:2450518
cx4
Hba-a1tm1Ywk/Hbath-J involves: 129X1/SvJ * C57BL/6J MGI:4453797


Genotype
MGI:3841991
hm1
Allelic
Composition
Hbath-J/Hbath-J
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbath-J mutation (2 available); any Hba mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygous embryos can be detected by E6.5, the percentage of homozygotes in heterozygous intercross matings is reduced to only 7.7% rather than the expected 25% by E5.5, but homozygotes implant and are found at normal numbers at implantation
• degeneration of homozygous embryos begins on E5.5 and is complete by E6.5

embryo
• homozygous blastocysts have fewer trophectoderm cells, 78.6% of normal, and slightly fewer than normal cells of the inner cell mass and therefore have fewer total cells than normal
• cells of the inner cell mass of homozygous blastocysts hatched from the zona pellucida and grown in culture become necrotic and and do not remain associated with the trophoblast monolayer, as happens in wildtype blastocyst cultures




Genotype
MGI:4355965
ht2
Allelic
Composition
Hbath-J/Hba+
Genetic
Background
B6.Cg-Hbath-J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbath-J mutation (2 available); any Hba mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• offspring of heterozygous females, both wild-type and heterozygous offspring, have lower body weights than the offspring of wild-type mothers bred to heterozygous males




Genotype
MGI:2450518
ht3
Allelic
Composition
Hbath-J/Hba+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbath-J mutation (2 available); any Hba mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected heterozygous mice are found at weaning (39% compared to the expected 50%)

growth/size/body

hematopoietic system
• low blood hemoglobin levels

Mouse Models of Human Disease
OMIM ID Ref(s)
Alpha-Thalassemia 604131 J:32654 , J:45721




Genotype
MGI:4453797
cx4
Allelic
Composition
Hba-a1tm1Ywk/Hbath-J
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hba-a1tm1Ywk mutation (0 available); any Hba-a1 mutation (1 available)
Hbath-J mutation (2 available); any Hba mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants do not survive as newborns

growth/size/body
• at E19.5, mutant fetuses are smaller than control fetuses

hematopoietic system
• at E17.5, mutant fetuses display severe hemolytic anemia
• at E17.5, mutant erythrocytees display notable anisocytosis, poikilocytosis, polychromasia, and targeting, characteristic of severe thalassemia
• virtually all mutant erythrocytes exhibit hemoglobin H inclusions
• at E17.5, hemoglobin H (beta4) is the major component constituting 55%-65% of total hemoglobin, as shown by isoelectric focusing electrophoresis
• at E17.5, mutant fetuses exhibit very high reticulocyte counts

integument
• 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





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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory