Phenotypes Associated with This Genotype

Genotype
MGI:2448372

• Allelic Composition: Spta1^sph/Spta1^sph
• Genetic Background: involves: C3H

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

mortality/aging

neonatal lethality, complete penetrance ( J:12276 )

• none survive for more than 24 hours

hematopoietic system

hemolytic anemia ( J:12276 )

decreased hematocrit ( J:12276 )

decreased hemoglobin content ( J:12276 )

poikilocytosis ( J:12276 )

spherocytosis ( J:12276 )

abnormal reticulocyte morphology ( J:7501 )

• reticulocytes do not accumulate alpha spectrin in their membranes and do not synthesize detectable amounts of alpha spectrin

cardiovascular system

dilated liver sinusoidal space ( J:12276 )

liver vascular congestion ( J:12276 )

• livers show considerable congestion

homeostasis/metabolism

increased circulating bilirubin level ( J:12276 )

liver/biliary system

abnormal liver morphology ( J:12276 )

• livers are much darker than in control littermates

dilated liver sinusoidal space ( J:12276 )

liver vascular congestion ( J:12276 )

• livers show considerable congestion

enlarged liver ( J:12276 )

jaundice ( J:12276 )

• gradually acquire a yellow color during the first few hours of life

integument

pallor ( J:12276 )

• extremely pale at birth

growth/size/body

enlarged liver ( J:12276 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spherocytosis type 1		DOID:0110916	OMIM:182900	J:12276
hereditary spherocytosis type 3		DOID:0110918	OMIM:270970	J:12276