Phenotypes Associated with This Genotype

Genotype
MGI:2448446

• Allelic Composition: Spta1^sph-ha/Spta1^sph-ha
• Genetic Background: involves: DBA/1J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:24729 , J:24829 )

• many animals die within a few days of birth (J:24729)

• Background Sensitivity: most homozygotes die within the first week of life, but some survive to adulthood (J:24829)

prenatal lethality, incomplete penetrance ( J:24829 )

• Background Sensitivity: a small percentage of homozygotes die in utero

pigmentation

abnormal skin pigmentation ( J:14946 )

hematopoietic system

enlarged spleen ( J:14946 , J:30699 )

hemolytic anemia ( J:30699 )

microcytic anemia ( J:24729 )

hypochromic microcytic anemia ( J:14946 )

• severe neonatal hypochromic microcytic anemia

erythroblastosis ( J:14946 )

abnormal erythrocyte morphology ( J:30699 )

• red blood cells are bizzare in shape and staining capacity

decreased hematocrit ( J:24829 )

• newborns have a mean hematocrit of 26.4 compared with 38.8 in controls and adults have a mean hematocrit of 29.1 compared with 48.7 in controls

decreased hemoglobin content ( J:24829 )

• newborns and adults have less than half the normal hemoglobin concentration

decreased mean corpuscular volume ( J:24829 )

• significantly reduced in both newborn homozygotes and adults

microcytosis ( J:24729 )

abnormal reticulocyte morphology ( J:7501 )

• reticulocytes synthesize 6-fold and initially bind 5-fold greater than normal amounts of newly synthesized alpha spectrin, yet accumulate very little in the membrane skeleton

reproductive system

infertility ( J:24729 )

cardiovascular system

cardiac hypertrophy ( J:14946 )

immune system

enlarged spleen ( J:14946 , J:30699 )

liver/biliary system

enlarged liver ( J:30699 )

jaundice ( J:14946 , J:24729 , J:30699 )

skeleton

abnormal bone marrow morphology ( J:30699 )

• bone marrow is hyperplastic

integument

abnormal skin pigmentation ( J:14946 )

growth/size/body

cardiac hypertrophy ( J:14946 )

enlarged liver ( J:30699 )

enlarged spleen ( J:14946 , J:30699 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spherocytosis type 1		DOID:0110916	OMIM:182900	J:14946 , J:30699
hereditary spherocytosis type 3		DOID:0110918	OMIM:270970	J:14946 , J:30699