Phenotypes Associated with This Genotype

Genotype
MGI:2177287

• Allelic Composition: Gpi1^b-m1Neu/Gpi1^b-m1Neu
• Genetic Background: C3.Cg-Gpi1^b-m1Neu

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

mortality/aging

lethality, incomplete penetrance ( J:35956 )

• at 4-6 weeks of age, there is a 20-30% reduction in the number of expected homozygous animals

postnatal lethality, incomplete penetrance ( J:10520 , J:35956 )

• some homozygous animals die in the period between birth and weaning age (J:35956)

growth/size/body

increased heart weight ( J:35956 )

decreased body weight ( J:35956 )

• mice weigh about 20% of the weight exhibited by controls

increased liver weight ( J:35956 )

increased spleen weight ( J:35956 )

• approximately a five-fold increase

hematopoietic system

increased spleen weight ( J:35956 )

• approximately a five-fold increase

abnormal erythrocyte morphology ( J:35956 )

decreased erythrocyte cell number ( J:35956 )

decreased hematocrit ( J:35956 )

decreased mean corpuscular hemoglobin ( J:35956 )

decreased mean corpuscular hemoglobin concentration ( J:35956 )

increased mean corpuscular volume ( J:35956 )

reticulocytosis ( J:35956 )

• reticulocyte counts are 60-70% compared to 2% in controls

abnormal erythrocyte physiology ( J:35956 )

• concentrations of ATP and ADP are elevated in erythrocytes

• a twofold increase of lactate formation and glucose consumption in erythorcytes is also observed

decreased erythrocyte osmotic fragility ( J:35956 )

• mutant erythrocytes are more resistant to osmotic stress than controls

immune system

increased spleen weight ( J:35956 )

• approximately a five-fold increase

liver/biliary system

increased liver weight ( J:35956 )

homeostasis/metabolism

increased circulating bilirubin level ( J:35956 )

increased circulating glucose level ( J:35956 )

abnormal enzyme/coenzyme activity ( J:35956 )

• in blood, GPI activity is reduced to 21% of the mean normal ativities

cardiovascular system

increased heart weight ( J:35956 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital nonspherocytic hemolytic anemia		DOID:2861	OMIM:206300 OMIM:206400 OMIM:300908 OMIM:613470	J:35956