Phenotypes Associated with This Genotype

Genotype
MGI:3664740

• Allelic Composition: Add2^tm1Llp/Add2^tm1Llp
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

Red blood cell and histological spleen comparison of Add2^tm1Llp/Add2^tm1Llp and +/+ wildtype mouse.

growth/size/body

enlarged spleen ( J:71029 )

hematopoietic system

enlarged spleen ( J:71029 )

anemia ( J:71029 , J:161920 )

abnormal erythrocyte morphology ( J:161920 )

• the amount of alpha adducin in red blood cell membranes is reduced to 20% of normal levels while there is a 5-fold increase in gamma adducin and there are many red blood cells of reduced size and abnormal shapes including spherocytes, spherostomatocytes, and rounded elliptocytes

decreased hematocrit ( J:71029 , J:161920 )

• hematocrit of 47.8% compared with 51.4% in wild-type controls (J:161920)

increased mean corpuscular hemoglobin concentration ( J:71029 )

decreased mean corpuscular volume ( J:71029 )

anisopoikilocytosis ( J:71029 , J:161920 )

• red blood cells are smaller and show a variety of shapes, including spehrocytes, spherostomatocytes, and rounded elliptocytes (J:71029)

microcytosis ( J:71029 )

• red blood cells are smaller

spherocytosis ( J:71029 , J:161920 )

reticulocytosis ( J:71029 , J:161920 )

• reticulocyte percentages are increased, indicating a compensatory acceleration of red blood cell production in response to chronic hemolysis (J:71029)

• the reticulocyte percentage is increased to 4.3% versus 2.8% in wild-type controls (J:161920)

increased spleen iron level ( J:71029 )

• iron deposition is increased in the spleen

abnormal erythrocyte physiology ( J:71029 )

• red blood cells are osmotically fragile and dehydrated (as indicated by decreased potassium and sodium content)

• red blood cells show decreased levels of alpha-adducin (Add1) and increased levels of gamma-adducin (Add3)

increased erythrocyte osmotic fragility ( J:161920 )

• increased red blood cell fragility as assessed by both osmotic lysis and ektacytometry

homeostasis/metabolism

increased spleen iron level ( J:71029 )

• iron deposition is increased in the spleen

increased kidney iron level ( J:71029 )

• iron deposition is increased in the kidney

increased liver iron level ( J:71029 )

• iron deposition is increased in the liver

immune system

enlarged spleen ( J:71029 )

increased spleen iron level ( J:71029 )

• iron deposition is increased in the spleen

liver/biliary system

increased liver iron level ( J:71029 )

• iron deposition is increased in the liver

renal/urinary system

increased kidney iron level ( J:71029 )

• iron deposition is increased in the kidney

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spherocytosis type 1		DOID:0110916	OMIM:182900	J:71029