Phenotypes Associated with This Genotype

Genotype
MGI:6188637

• Allelic Composition: Tpi1^rbc19/Tpi1^rbc19
• Genetic Background: SJL-Tpi1^rbc19

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

hematopoietic system

enlarged spleen ( J:263104 )

abnormal erythropoiesis ( J:263104 )

• spleen shows an expansion of early Ter-119+ CD71-hi erythroblasts, indicative of stress erythropoiesis

hemolytic anemia ( J:263104 )

• macrocytic hemolytic anemia

• homozygotes reconstituted with wild-type bone marrow show restoration of all peripheral red blood cell parameters after 7 weeks recovery, indicating rescue of the macrocytic hemolytic anemia

macrocytic anemia ( J:263104 )

• macrocytic hemolytic anemia

decreased erythrocyte cell number ( J:263104 )

decreased hematocrit ( J:263104 )

increased mean corpuscular hemoglobin ( J:263104 )

macrocytosis ( J:263104 )

• macrocytic red blood cells

polychromatophilia ( J:263104 )

reticulocytosis ( J:263104 )

abnormal spleen red pulp morphology ( J:263104 )

• dense, crowded red pulp packed with proliferating erythroid precursors

abnormal erythrocyte physiology ( J:263104 )

• mice exhibit reduced half-life of red blood cells of 8 days versus 17 days in wild-type mice

homeostasis/metabolism

abnormal homeostasis ( J:263104 )

• levels of the end products of glycolysis, pyruvate and lactic acid, are reduced in the serum

increased circulating bilirubin level ( J:263104 )

immune system

enlarged spleen ( J:263104 )

abnormal spleen red pulp morphology ( J:263104 )

• dense, crowded red pulp packed with proliferating erythroid precursors

nervous system

nervous system phenotype ( J:263104 )

N • mice show no neurological phenotype, no loss of mobility or grip strength with age and normal brain histology at 9 months of age

growth/size/body

enlarged spleen ( J:263104 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
triosephosphate isomerase deficiency		DOID:0050884	OMIM:615512	J:263104