Phenotypes Associated with This Genotype

Genotype
MGI:4948066

• Allelic Composition: Ank1^M1Wlst/Ank1^M1Wlst
• Genetic Background: involves: 129S1/SvImJ * C3H/HeJ * C57BL/6

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

mortality/aging

premature death ( J:170562 )

• the mean lifespan of mice that survive to adulthood is 28 weeks

postnatal lethality, incomplete penetrance ( J:170562 )

• many jaundice mice die within 2 weeks of birth

hematopoietic system

enlarged spleen ( J:170562 )

• in adult mice

abnormal common myeloid progenitor cell morphology ( J:170562 )

• CFU-C progenitors are increased in the spleen and liver of adult mice compared to in wild-type mice

decreased common myeloid progenitor cell number ( J:170562 )

• total CFU-C, including and most severely affecting CFU-macrophage and CFU-granulocyte-macrophage progenitors, are reduced in the bone marrow of adult mice compared with wild-type mice

abnormal myelopoiesis ( J:170562 )

• mice exhibit myelodysplasia with increased CFU-progenitors in the adult spleen and liver compared with wild-type mice

extramedullary hematopoiesis ( J:170562 )

• profound in adult bone marrow, spleen, and liver

hemolytic anemia ( J:170562 )

• severe in adult mice

increased erythroid progenitor cell number ( J:170562 )

• adult mice exhibit a more than 10-fold increase in mature erythroblasts in the peripheral blood, doubling in the bone marrow, and a 25-fold increase in the spleen compared with wild-type mice

• CFU-E are increased 4-fold in the bone marrow and 125-fold in the spleen of adult mice

erythroblastosis ( J:170562 )

• in adult mice

abnormal erythrocyte morphology ( J:170562 )

• adult mice exhibit increased amorphous red blood cells, red cell fragments, and nucleated red blood cells compared with wild-type mice

decreased hematocrit ( J:170562 )

increased nucleated erythrocyte cell number ( J:170562 )

• in adult mice

polychromatophilia ( J:170562 )

• in adult mice

spherocytosis ( J:170562 )

• in adult mice

reticulocytosis ( J:170562 )

• in adult mice

growth/size/body

enlarged heart ( J:170562 )

• in adult mice

decreased birth weight ( J:170562 )

decreased body size ( J:170562 )

• mice that survive to weaning are runted compared with wild-type mice

decreased body weight ( J:170562 )

• in adult mice

postnatal growth retardation ( J:170562 )

decreased fetal weight ( J:170562 )

• at E17.5

enlarged spleen ( J:170562 )

• in adult mice

liver/biliary system

gallstones ( J:170562 )

• in adult mice

jaundice ( J:170562 )

• in some neonates

cardiovascular system

enlarged heart ( J:170562 )

• in adult mice

integument

pallor ( J:170562 )

• at E17.5

immune system

enlarged spleen ( J:170562 )

• in adult mice

abnormal myelopoiesis ( J:170562 )

• mice exhibit myelodysplasia with increased CFU-progenitors in the adult spleen and liver compared with wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spherocytosis type 1		DOID:0110916	OMIM:182900	J:170562