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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hk1dea
downeast anemia
MGI:2151848
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hk1dea/Hk1dea A/J-Hk1dea/J MGI:3581162


Genotype
MGI:3581162
hm1
Allelic
Composition
Hk1dea/Hk1dea
Genetic
Background
A/J-Hk1dea/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hk1dea mutation (1 available); any Hk1 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

hematopoietic system
• 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
• accelerated erythropoiesis
• decreased red cell mean corpuscular hemoglobin content
• have 83% circulating reticulocytes compared to 3.1% in controls
• the normal nodular splenic architecture is completely effaced
• expansion of the splenic red pulp
• spleen weight is increased fourfold

homeostasis/metabolism
• elevated bilirubin levels, indicating red cell hemolysis
• iron accumulation in kidney tubules and liver but not in the spleen
• iron accumulation in kidney tubules and liver but not in the spleen

reproductive system

immune system
• the normal nodular splenic architecture is completely effaced
• expansion of the splenic red pulp
• spleen weight is increased fourfold

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

renal/urinary system
• iron accumulation in kidney tubules and liver but not in the spleen

integument
• extreme pallor at birth that persists throughout life





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory