Phenotypes Associated with This Genotype

Genotype
MGI:2683609

• Allelic Composition: Hba^tm1Ney/Hba^tm1Ney
• Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129X1/SvJ)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:86682 )

• homozygotes are viable but present at one-third the expected Mendelian frequency at weaning

hematopoietic system

anemia ( J:86682 )

• at E14.5, homozygotes are anemic

• adult homozygotes are mildly anemic

abnormal erythrocyte morphology ( J:86682 )

• blood smears from adult homozygotes indicate the presence of target cells (codocytes), hypochromic cells, and prominent fragments in blood

• the overall presentation is consistent with alpha-thalassemia intermedia

increased erythrocyte cell number ( J:86682 )

• adult homozygotes show a higher RBC than wild-type controls (9.8 +/- 0.7 x 10⁶/uL vs 8.5 +/- 0.4 x 10⁶/uL, respectively)

decreased hemoglobin content ( J:86682 )

• adult homozygotes display lower hemoglobin levels than wild-type controls (10.9 +/- 1.1 g/dL vs 15.2 +/- 0.7 g/dL, respectively)

decreased mean corpuscular hemoglobin ( J:86682 )

• adult homozygotes display hypochromia relative to wild-type controls (MCH 11.1 +/- 1.1 pg/cell vs 17.8 +/- 0.9 pg/cell, respectively)

decreased mean corpuscular volume ( J:86682 )

• adult homozygotes display decreased MCV relative to wild-type controls (44 +/- 4 fL vs 54 +/- 2 fL, respectively)

anisopoikilocytosis ( J:86682 )

• blood smears from adult homozygotes indicate a marked variation in erythrocyte size and shape

leptocytosis ( J:86682 )

• blood smears from adult homozygotes indicate the presence of target cells (codocytes)

schistocytosis ( J:86682 )

• adult homozygotes exhibit prominent erythrocyte fragments in blood smears

reticulocytosis ( J:86682 )

• adult homozygotes show a much higher % of reticulocytes than wild-type controls (32.4 +/- 10.7 vs 2.9 +/- 0.4, respectively)

homeostasis/metabolism

hydrops fetalis ( J:86682 )

• at E14.5, homozygotes are edematous

integument

pallor ( J:86682 )

• at E14.5, homozygotes are pale

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha thalassemia		DOID:1099	OMIM:604131	J:86682