Phenotypes Associated with This Genotype

Genotype
MGI:3764497

• Allelic Composition: Hba^tm1Paz/Hba^tm1Paz; Hbb^tm1Tow/Hbb^tm1Tow; Tg(HBA-HBBs)41Paz/?
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * Black Swiss * C57BL/6 * DBA/2* FVB/N

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:44161 )

• many pups turn purple and die within a few hours of birth, however, mice that survive live to become adults (reaching at least 7 months of age)

growth/size/body

increased heart weight ( J:44161 )

• weight is increased 2-fold as compared to control

kidney cyst ( J:44161 )

increased kidney weight ( J:44161 )

• weight is increased 2-fold as compared to control

increased spleen weight ( J:44161 )

• weight is increased 13-fold as compared to control

hematopoietic system

spleen vascular congestion ( J:44161 )

• congested sinusoidal channels are observed in spleen

increased spleen weight ( J:44161 )

• weight is increased 13-fold as compared to control

anemia ( J:44161 )

abnormal erythrocyte morphology ( J:44161 )

• erythrocytes have increased dynamic rigidity

decreased hematocrit ( J:44161 )

• average hematocrit levels are 65% of control at 3-7 months of age

abnormal hemoglobin ( J:44161 )

• erythrocytes contain an excess of alpha globin chain synthesis

decreased mean corpuscular hemoglobin ( J:44161 )

decreased mean corpuscular hemoglobin concentration ( J:44161 )

decreased mean corpuscular volume ( J:44161 )

anisopoikilocytosis ( J:44161 )

• sickle cell shapes are observed at a frequency of 5-10% in oxygenated blood

reticulocytosis ( J:44161 )

• reticulocyte counts are elevated at 3-7 months of age

decreased erythrocyte osmotic fragility ( J:44161 )

• erythrocytes have decreased osmotic fragility

homeostasis/metabolism

hypoxia ( J:44161 )

• cause of death in some newborn mice

increased kidney iron level ( J:44161 )

• iron deposits found in the tubular epithelium of the kidney

increased liver iron level ( J:44161 )

• iron deposits found in Kupffer cells of liver

cardiovascular system

abnormal kidney vasculature morphology ( J:44161 )

• kidney infarction

abnormal liver vasculature morphology ( J:44161 )

• liver infarction

abnormal lung vasculature morphology ( J:44161 )

• lung infarction

spleen vascular congestion ( J:44161 )

• congested sinusoidal channels are observed in spleen

increased heart weight ( J:44161 )

• weight is increased 2-fold as compared to control

renal/urinary system

abnormal kidney vasculature morphology ( J:44161 )

• kidney infarction

kidney cyst ( J:44161 )

increased kidney weight ( J:44161 )

• weight is increased 2-fold as compared to control

increased kidney iron level ( J:44161 )

• iron deposits found in the tubular epithelium of the kidney

kidney atrophy ( J:44161 )

renal fibrosis ( J:44161 )

immune system

spleen vascular congestion ( J:44161 )

• congested sinusoidal channels are observed in spleen

increased spleen weight ( J:44161 )

• weight is increased 13-fold as compared to control

liver/biliary system

abnormal liver vasculature morphology ( J:44161 )

• liver infarction

increased liver iron level ( J:44161 )

• iron deposits found in Kupffer cells of liver

respiratory system

abnormal lung vasculature morphology ( J:44161 )

• lung infarction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sickle cell anemia		DOID:10923	OMIM:603903	J:44161