Phenotypes associated with this allele

• Allele Symbol: Hk1^dea
• Allele Name: downeast anemia
• Allele ID: MGI:2151848
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hk1^dea/Hk1^dea	A/J-Hk1^dea/J	MGI:3581162

Genotype
MGI:3581162

hm1

• Allelic Composition: Hk1^dea/Hk1^dea
• Genetic Background: A/J-Hk1^dea/J

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

growth/size/body

decreased body size ( J:72146 )

increased spleen weight ( J:72146 )

• spleen weight is increased fourfold

hematopoietic system

anemia ( J:72146 )

hemolytic anemia ( J:72146 )

abnormal erythrocyte morphology ( J:72146 )

• spherocytes are absent and echinocytes are invariably present in peripheral blood smears

• red cells pull apart and only thin strands of membrane attach the two halves in blood smears

abnormal erythropoiesis ( J:72146 )

• accelerated erythropoiesis

decreased erythrocyte cell number ( J:72146 )

decreased hematocrit ( J:72146 )

decreased hemoglobin content ( J:72146 )

decreased mean corpuscular hemoglobin ( J:72146 )

• decreased red cell mean corpuscular hemoglobin content

increased mean corpuscular volume ( J:72146 )

anisocytosis ( J:72146 )

hyperchromasia ( J:72146 )

polychromatophilia ( J:72146 )

reticulocytosis ( J:72146 )

• have 83% circulating reticulocytes compared to 3.1% in controls

abnormal spleen morphology ( J:72146 )

• the normal nodular splenic architecture is completely effaced

increased spleen weight ( J:72146 )

• spleen weight is increased fourfold

increased spleen red pulp amount ( J:72146 )

• expansion of the splenic red pulp

homeostasis/metabolism

increased circulating bilirubin level ( J:72146 )

• elevated bilirubin levels, indicating red cell hemolysis

increased kidney iron level ( J:72146 )

• iron accumulation in kidney tubules and liver but not in the spleen

increased liver iron level ( J:72146 )

• iron accumulation in kidney tubules and liver but not in the spleen

reproductive system

female infertility ( J:72146 )

♀

immune system

abnormal spleen morphology ( J:72146 )

• the normal nodular splenic architecture is completely effaced

increased spleen weight ( J:72146 )

• spleen weight is increased fourfold

increased spleen red pulp amount ( J:72146 )

• expansion of the splenic red pulp

liver/biliary system

increased liver iron level ( J:72146 )

• iron accumulation in kidney tubules and liver but not in the spleen

renal/urinary system

increased kidney iron level ( J:72146 )

• iron accumulation in kidney tubules and liver but not in the spleen

integument

pallor ( J:72146 )

• extreme pallor at birth that persists throughout life