Phenotypes Associated with This Genotype

Genotype
MGI:3844300

• Allelic Composition: Ank1^Rbc2/Ank1^Rbc2
• Genetic Background: involves: 129S1/Sv * BALB/c

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

growth/size/body

enlarged spleen ( J:148127 )

• 6-fold

mortality/aging

premature death ( J:148127 )

• all mice die by 8 weeks of age

perinatal lethality, incomplete penetrance ( J:148127 )

• the number of live births is less than expected

postnatal lethality, incomplete penetrance ( J:148127 )

• fewer than expected mice are present at weaning

hematopoietic system

enlarged spleen ( J:148127 )

• 6-fold

extramedullary hematopoiesis ( J:148127 )

anemia ( J:148127 )

• severe

abnormal erythrocyte morphology ( J:148127 )

• as early as E18.5, mice exhibit red cell fragmentation and membrane blebbing unlike in wild-type mice

decreased erythrocyte cell number ( J:148127 )

• as early as E18.5

decreased hematocrit ( J:148127 )

• as early as E18.5

increased hemoglobin concentration distribution width ( J:148127 )

decreased hemoglobin content ( J:148127 )

decreased mean corpuscular hemoglobin concentration ( J:148127 )

increased nucleated erythrocyte cell number ( J:148127 )

• mice exhibit circulating nucleated erythroblasts unlike in wild-type mice

anisocytosis ( J:148127 )

poikilocytosis ( J:148127 )

spherocytosis ( J:148127 )

• as early as E18.5

reticulocytosis ( J:148127 )

abnormal erythrocyte physiology ( J:148127 )

• erythrocyte half-life is 2 days compared to 32 days in wild-type mice

• mice exhibit an increase in the markers of red cell destruction (bilirubin serum levels and iron overload in the liver) compared to in wild-type mice

increased erythrocyte osmotic fragility ( J:148127 )

homeostasis/metabolism

increased circulating bilirubin level ( J:148127 )

• 4 times higher than in wild-type mice

increased liver iron level ( J:148127 )

• 4-fold higher at 52 days

immune system

enlarged spleen ( J:148127 )

• 6-fold

liver/biliary system

increased liver iron level ( J:148127 )

• 4-fold higher at 52 days

jaundice ( J:148127 )

• in 15% of mice within hours of birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spherocytosis type 1		DOID:0110916	OMIM:182900	J:148127