Phenotypes associated with this allele

• Allele Symbol: Hba-a1^tm1Ywk
• Allele Name: targeted mutation 1, Yuet Wai Kan
• Allele ID: MGI:2677594
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hba-a1^tm1Ywk/Hba-a1^tm1Ywk	involves: 129X1/SvJ * C57BL/6J	MGI:2679509
ht2	Hba-a1^tm1Ywk/Hba-a1^+	involves: 129X1/SvJ * C57BL/6J	MGI:2679510
cx3	Hba-a1^tm1Ywk/Hba^th-J	involves: 129X1/SvJ * C57BL/6J	MGI:4453797

Genotype
MGI:2679509

hm1

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

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

hematopoietic system

hemolytic anemia ( J:35018 )

• homozygotes display mild hemolytic anemia

abnormal hemoglobin ( J:35018 )

• hemoglobin H (beta4) constitutes 15% of total hemoglobin, as shown by isoelectric focusing electrophoresis

decreased hemoglobin content ( J:35018 )

• homozygotes display reduced hemoglobin levels relative to wild-type controls (13.20 +/- 0.69 g/dL versus 14.65 +/- 1.34 g/dL, respectively, n=5)

decreased mean corpuscular hemoglobin ( J:35018 )

• homozygotes display a lower MCH than wild-type controls (12.15 +/- 0.50 pg versus 16.93 +/- 0.43 pg, respectively, n=5)

decreased mean corpuscular volume ( J:35018 )

• homozygotes display a lower MCV than wild-type controls (45.05 +/- 1.22 fL versus 56.71 +/- 0.99 fL, respectively, n=5)

reticulocytosis ( J:35018 )

• homozygotes display a significantly higher reticulocyte percentage than wild-type controls (11.33 +/- 0.58 versus 2.58 +/- 0.84, respectively, n=3)

Genotype
MGI:2679510

ht2

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

hematopoietic system

anemia ( J:35018 )

• heterozygotes are borderline anemic relative to wild-type controls

• however, heterozygotes are not hemolytic, as shown by normal reticulocyte counts

decreased mean corpuscular volume ( J:35018 )

• heterozygotes display a borderline reduction in MCV, similar to that sometimes seen in human silent carriers, indicating a mild alpha-thalassemia phenotype

Genotype
MGI:4453797

cx3

• 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