Phenotypes associated with this allele

• Allele Symbol: Exoc6^hbd
• Allele Name: hemoglobin deficient
• Allele ID: MGI:1856894
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Exoc6^hbd/Exoc6^hbd	AB.Cg-Exoc6^hbd	MGI:3617758
hm2	Exoc6^hbd/Exoc6^hbd	B6.Cg-Exoc6^hbd/J	MGI:3617809
hm3	Exoc6^hbd/Exoc6^hbd	involves: STOCK A^y	MGI:3618164

Genotype
MGI:3617758

hm1

• Allelic Composition: Exoc6^hbd/Exoc6^hbd
• Genetic Background: AB.Cg-Exoc6^hbd

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

growth/size/body

enlarged spleen ( J:8251 )

• mild splenomegaly

hematopoietic system

enlarged spleen ( J:8251 )

• mild splenomegaly

microcytic anemia ( J:8251 )

• anemic at birth and remains into adult life, however anemia is most severe during infancy

• anemia is not due to excess hemolysis, iron deficiency, or ferrochelatase deficiency, and is not a thalassemia

decreased hemoglobin content ( J:8251 )

decreased mean corpuscular hemoglobin ( J:8251 )

• exhibit hypochromia

anisocytosis ( J:8251 )

• mild to moderate

increased erythrocyte protoporphyrin level ( J:8251 )

• elevation in the free erythrocyte protoporphyrin level

microcytosis ( J:8251 )

poikilocytosis ( J:8251 )

polychromatophilia ( J:8251 )

reticulocytosis ( J:8251 )

decreased spleen iron level ( J:8251 )

• exhibit less iron deposition in the spleen than in controls

decreased erythrocyte osmotic fragility ( J:8251 )

• osmotic fragility of red blood cells is reduced

homeostasis/metabolism

increased erythrocyte protoporphyrin level ( J:8251 )

• elevation in the free erythrocyte protoporphyrin level

decreased spleen iron level ( J:8251 )

• exhibit less iron deposition in the spleen than in controls

increased circulating iron level ( J:8251 )

• higher plasma iron levels

abnormal enzyme/coenzyme activity ( J:8251 )

• level of porphobilinogen deaminase activity is higher

immune system

enlarged spleen ( J:8251 )

• mild splenomegaly

decreased spleen iron level ( J:8251 )

• exhibit less iron deposition in the spleen than in controls

Genotype
MGI:3617809

hm2

• Allelic Composition: Exoc6^hbd/Exoc6^hbd
• Genetic Background: B6.Cg-Exoc6^hbd/J

hematopoietic system

microcytic anemia ( J:42436 , J:105712 )

abnormal erythrocyte morphology ( J:105712 )

abnormal erythropoiesis ( J:42436 )

• wild-type recipients of bone marrow transplants from homozygotes develop microcytic anemia like homozygotes, however repopulation with mutant marrow is slower than with wild-type marrow and mutant marrow makes no significant contribution to repopulation in mixed repopulation experiments

decreased hematocrit ( J:42436 , J:105712 )

decreased hemoglobin content ( J:42436 , J:105712 )

decreased mean corpuscular hemoglobin concentration ( J:42436 )

decreased mean corpuscular volume ( J:42436 , J:105712 )

increased erythrocyte protoporphyrin level ( J:42436 )

• elevation in zinc protoporphyrin levels

microcytosis ( J:42436 )

homeostasis/metabolism

increased erythrocyte protoporphyrin level ( J:42436 )

• elevation in zinc protoporphyrin levels

abnormal iron homeostasis ( J:105712 )

• elevation in zinc protoporphyrin levels, suggesting ineffective utilization of iron

Genotype
MGI:3618164

hm3

• Allelic Composition: Exoc6^hbd/Exoc6^hbd
• Genetic Background: involves: STOCK A^y

mortality/aging

preweaning lethality, incomplete penetrance ( J:5439 )

• fetal loss is apparent, stage not specified

hematopoietic system

hypochromic anemia ( J:5439 )

• hypochromic anemia is seen in young mice, with improvement, but not complete remission, by adult life

abnormal proerythroblast morphology ( J:5439 )

• normoblastemia in neonates

decreased erythrocyte cell number ( J:5439 )

• red cell count remains subnormal at all ages

decreased mean corpuscular hemoglobin ( J:5439 )

• hypochromic anemia, with the MCH lower at all ages

increased mean corpuscular volume ( J:5439 )

hyperchromasia ( J:5439 )

macrocytosis ( J:5439 )

polychromatophilia ( J:5439 )

decreased erythrocyte osmotic fragility ( J:5439 )

• osmotic fragility of red blood cells is reduced