Phenotypes associated with this allele

• Allele Symbol: Hba^b2(th)
• Allele Name: 352HB deletion, Oak Ridge
• Allele ID: MGI:2677682
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hba^b2(th)/Hba^b2(th)	SEC-Hba^b2(th)	MGI:3720084
ht2	Hba^b2(th)/Hba^+	either: (involves: 101 * SEC) or (involves: 101 * C57BL * SEC)	MGI:3720079
ht3	Hba^b2(th)/Hba^+	involves: 101/Rl * SEC/Rl	MGI:3720078
ht4	Hba^b2(th)/Hba^+	involves: C57BL/6J * SEC	MGI:3720080
ht5	Hba^b2(th)/Hba^+	SEC-Hba^b2(th)	MGI:3720082

Genotype
MGI:3720084

hm1

• Allelic Composition: Hba^b2(th)/Hba^b2(th)
• Genetic Background: SEC-Hba^b2(th)

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

mortality/aging

embryonic lethality between implantation and somite formation, incomplete penetrance ( J:6452 )

• most embryos appear to die between E.5. and E6.5

embryo

embryonic growth retardation ( J:6452 )

• 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

trophectoderm cell degeneration ( J:6452 )

• at E5.5 some embryos remain in the late blastocyst stage and these have pycnotic cells in the trophectoderm

growth/size/body

embryonic growth retardation ( J:6452 )

• 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

Genotype
MGI:3720079

ht2

• Allelic Composition: Hba^b2(th)/Hba⁺
• Genetic Background: either: (involves: 101 * SEC) or (involves: 101 * C57BL * SEC)

hematopoietic system

hypochromic microcytic anemia ( J:123943 )

increased erythrocyte cell number ( J:123943 )

decreased hematocrit ( J:123943 )

decreased hemoglobin content ( J:123943 )

decreased mean corpuscular hemoglobin ( J:123943 )

decreased mean corpuscular volume ( J:123943 )

• reduced mean cell volume despite increased red cell numbers

anisocytosis ( J:123943 )

acanthocytosis ( J:86011 )

anisopoikilocytosis ( J:86011 )

• red cells of irregular size and shape with pitted surfaces and blebs are seen

dacryocytosis ( J:86011 )

leptocytosis ( J:86011 )

• increase in the percentage of red blood cells with flattened or doughnut shape (26%) compared to controls

microcytosis ( J:123943 )

• red cells are 75 - 80% the size of wild-type cells

poikilocytosis ( J:86011 )

• increase in the percentage of acanthocytes and red blood cells with teardrop shape (43.2%) compared to controls

increased leukocyte cell number ( J:123943 )

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

reticulocytosis ( J:123943 )

immune system

increased leukocyte cell number ( J:123943 )

• 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		DO ID	OMIM ID(s)	Ref(s)
alpha thalassemia		DOID:1099	OMIM:604131	J:123943

Genotype
MGI:3720078

ht3

• Allelic Composition: Hba^b2(th)/Hba⁺
• Genetic Background: involves: 101/Rl * SEC/Rl

hematopoietic system

abnormal hemoglobin ( J:5686 )

• display a diminished fast band, higher than normal solubility, and precipitates containing few, large, found aggregates of crystals

increased erythrocyte clearance ( J:150481 )

• 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

premature death ( J:150481 )

• the mean age of death is less than normal

Genotype
MGI:3720080

ht4

• Allelic Composition: Hba^b2(th)/Hba⁺
• Genetic Background: involves: C57BL/6J * SEC

mortality/aging

postnatal lethality ( J:32654 )

• fewer than expected heterozygous mice are found at weaning (37% compared to the expected 50%)

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

Genotype
MGI:3720082

ht5

• Allelic Composition: Hba^b2(th)/Hba⁺
• Genetic Background: SEC-Hba^b2(th)

hematopoietic system

abnormal fetal derived definitive erythrocyte morphology ( J:6452 )

• 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

growth/size/body region phenotype ( J:6452 )

N • unlike mice heterozygous for SEC-Hba^b3(th), body weights of heterozygous mice are similar to control littermates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha thalassemia		DOID:1099	OMIM:604131	J:6452