Phenotypes associated with this allele

• Allele Symbol: Eif2ak1^tm1Jjch
• Allele Name: targeted mutation 1, Jane-Jane Chen
• Allele ID: MGI:2679454
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eif2ak1^tm1Jjch/Eif2ak1^tm1Jjch	Not Specified	MGI:2679502

Genotype
MGI:2679502

hm1

• Allelic Composition: Eif2ak1^tm1Jjch/Eif2ak1^tm1Jjch
• Genetic Background: Not Specified

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

cardiovascular system

enlarged heart ( J:85896 )

• heart enlargement of 50% as a result of iron deficiency

growth/size/body

enlarged heart ( J:85896 )

• heart enlargement of 50% as a result of iron deficiency

hematopoietic system

extramedullary hematopoiesis ( J:85896 )

• iron deficiency causes 10X enlargement of spleen

• red pulp of spleen is expanded

• erythroid precursors in spleen are increased

macrocytic anemia ( J:85896 )

• RBC counts dropped severely

abnormal erythrocyte morphology ( J:85896 )

abnormal erythropoiesis ( J:85896 )

• erythroid precursors in bone marrow are increased

abnormal mean corpuscular hemoglobin ( J:85896 )

• RBC hemoglobin concentration increased

• increased insoluble precipitated globins with iron deficiency

• hemin unable to upregulate globin synthesis

• results in hyperchromia

increased mean corpuscular volume ( J:85896 )

• slight increase in RBC volume

increased number of Heinz bodies ( J:85896 )

• increased number of RBCs with Heinz bodies, by up to 80% with iron deficiency

abnormal erythrocyte physiology ( J:85896 )

• global increase in protein synthesis in RBCs

• increase in larger sized polysomes

• beta-globin mRNA levels unchanged so rate of translation initiation is increased

increased erythrocyte osmotic fragility ( J:85896 )

• increased sensitivity to erythroid stress

homeostasis/metabolism

abnormal iron homeostasis ( J:85896 )

• heme deficiency when fed an iron deficient diet