Phenotypes associated with this allele

• Allele Symbol: Hba^th-J
• Allele Name: alpha thalassemia Jackson
• Allele ID: MGI:1858115
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hba^th-J/Hba^th-J	involves: C57BL/6J	MGI:3841991
ht2	Hba^th-J/Hba^+	B6.Cg-Hba^th-J	MGI:4355965
ht3	Hba^th-J/Hba^+	involves: C57BL/6J	MGI:2450518
cx4	Hba-a1^tm1Ywk/Hba^th-J	involves: 129X1/SvJ * C57BL/6J	MGI:4453797

Genotype
MGI:3841991

hm1

• Allelic Composition: Hba^th-J/Hba^th-J
• Genetic Background: involves: C57BL/6J

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:29665 )

• 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

abnormal blastocyst morphology ( J:29665 )

• 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

abnormal inner cell mass morphology ( J:29665 )

• 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

abnormal trophectoderm morphology ( J:29665 )

Genotype
MGI:4355965

ht2

• Allelic Composition: Hba^th-J/Hba⁺
• Genetic Background: B6.Cg-Hba^th-J

cellular

maternal effect ( J:29127 )

• 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: Hba^th-J/Hba⁺
• Genetic Background: involves: C57BL/6J

mortality/aging

postnatal lethality ( J:32654 )

• fewer than expected heterozygous mice are found at weaning (39% compared to the expected 50%)

growth/size/body

decreased body weight ( J:45721 )

hematopoietic system

increased erythrocyte cell number ( J:45721 )

• erythrocytosis

decreased hemoglobin content ( J:45721 )

• low blood hemoglobin levels

microcytosis ( J:45721 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha thalassemia		DOID:1099	OMIM:604131	J:32654 , J:45721

Genotype
MGI:4453797

cx4

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

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