Phenotypes associated with this allele

• Allele Symbol: Sptb^ja
• Allele Name: jaundiced
• Allele ID: MGI:1856378
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sptb^ja/Sptb^ja	129/Sv-Sptb^ja	MGI:2658931
hm2	Sptb^ja/Sptb^ja	involves: 129/Sv * C57BL/6J * WB/Re	MGI:3767063
hm3	Sptb^ja/Sptb^ja	(WB.129-Sptb^ja/J x B6.129-Sptb^ja/J)F1	MGI:4819589
ht4	Sptb^ja/Sptb^+	129/Sv-Sptb^ja	MGI:3575399
ht5	Sptb^ja/Sptb^+	involves: 129/Sv * C57BL/6J * WB/Re	MGI:3767064
ht6	Sptb^ja/Sptb^+	(WB.129-Sptb^ja/J x B6.129-Sptb^ja/J)F1	MGI:4819612

Genotype
MGI:2658931

hm1

• Allelic Composition: Sptb^ja/Sptb^ja
• Genetic Background: 129/Sv-Sptb^ja

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:7501 )

• most homozygotes die within a day or two of birth, but a few survive to adulthood

prenatal lethality, incomplete penetrance ( J:305 )

• incomplete penetrance

cardiovascular system

enlarged heart ( J:305 )

• evident at E15

hematopoietic system

enlarged spleen ( J:305 )

• evident at E15

hemolytic anemia ( J:305 )

• evident as early as E15; about half the normal number of red cells are present

• there is considerable erythrocyte destruction and a compensating release of immature blood cells into the circulation

anisocytosis ( J:305 )

poikilocytosis ( J:305 )

abnormal reticulocyte morphology ( J:7501 )

• spectrin does not accumulate in the reticulocyte plasma membrane

reticulocytosis ( J:305 )

immune system

enlarged spleen ( J:305 )

• evident at E15

liver/biliary system

multifocal hepatic necrosis ( J:305 )

• evident at P2

enlarged liver ( J:305 )

• evident at P2

jaundice ( J:305 )

• developed within hours after birth

cellular

multifocal hepatic necrosis ( J:305 )

• evident at P2

growth/size/body

enlarged heart ( J:305 )

• evident at E15

enlarged liver ( J:305 )

• evident at P2

enlarged spleen ( J:305 )

• evident at E15

Genotype
MGI:3767063

hm2

• Allelic Composition: Sptb^ja/Sptb^ja
• Genetic Background: involves: 129/Sv * C57BL/6J * WB/Re

hematopoietic system

increased erythrocyte protoporphyrin level ( J:5985 )

• red blood cell protoporphyrin levels are about 10 times higher than in controls

homeostasis/metabolism

increased erythrocyte protoporphyrin level ( J:5985 )

• red blood cell protoporphyrin levels are about 10 times higher than in controls

Genotype
MGI:4819589

hm3

• Allelic Composition: Sptb^ja/Sptb^ja
• Genetic Background: (WB.129-Sptb^ja/J x B6.129-Sptb^ja/J)F1

mortality/aging

premature death ( J:44313 )

• homozygotes transfused with peripheral blood cells during one of the first 3 days of life generally survive to adulthood with a mean life expectancy of 3.7 months

neonatal lethality, incomplete penetrance ( J:162532 )

• most homozygotes die within 48 hours of birth

postnatal lethality, incomplete penetrance ( J:44313 , J:162532 )

• nearly all untreated homozygotes die by 4 days of age, although a single transfusion of wild type peripheral blood cells at 1, 2, or 3 days of age can prolong lifespan into adulthood (J:44313)

• fewer than 13% of homozygotes survive to weaning (J:162532)

cellular

renal tubular necrosis ( J:44313 )

muscle

abnormal myocardium layer morphology ( J:44313 )

• 38% of transfusion rescued adults show sites of infarction in the myocardium in the ventricular or ventricular septal regions and 15% display large thrombi within the heart mainly in the mitral or left atrioventricular valve

hematopoietic system

enlarged spleen ( J:44313 , J:162532 )

• transfusion rescued adults have severe splenomegaly with expanded vasculature, areas of necrosis and fibrosis, and most of the splenic mass made of red pulp (J:44313)

extramedullary hematopoiesis ( J:162532 )

hemolytic anemia ( J:162532 )

abnormal erythrocyte morphology ( J:62355 )

• cell surface expression of phosphatidylserine is higher than in wild-type controls, with 11.6% of erythrocytes straining positive for phosphatidylserine versus 1.6% in wild-type controls

decreased erythrocyte cell number ( J:44313 )

• transfusion rescued adults have very low red blood cell count, 4,200,000/ul instead of 9,150,000/ul

low mean erythrocyte cell number ( J:162532 )

• approximately half of normal numbers

decreased hematocrit ( J:44313 , J:162532 )

• transfusion rescued adult homozygotes have a mean hematocrit of 21.6% compared with 45% in wild-type controls (J:44313)

• mean hematocrit is reduced to 24.7% from 50.4% in wild-type controls (J:162532)

decreased cellular hemoglobin content ( J:44313 )

• decreased to 18.6% in transfusion resuced adults compared to 29.8% in controls

decreased hemoglobin content ( J:44313 , J:162532 )

• greatly reduced hemoglobin of 4 g/dL in transfusion rescued adults compared to 13.5 g/dL in controls (J:44313)

• mean hemoglobin content is reduced to 4.85 g/dl from 15.64 g/dl in wild-type controls (J:162532)

increased nucleated erythrocyte cell number ( J:162532 )

• more than 10 times normal levels

anisopoikilocytosis ( J:162532 )

microcytosis ( J:62355 )

• the percentage of erythroid cells that are microcytes is much larger than in wild-type controls

poikilocytosis ( J:162532 )

schistocytosis ( J:162532 )

reticulocytosis ( J:44313 , J:162532 )

• approximately 90% reticulocytes (J:44313)

• mean percent of reticulocytes is substantially increased from 3.16% in wild-type controls to 91.4% (J:162532)

increased spleen red pulp amount ( J:44313 )

abnormal erythrocyte physiology ( J:162532 )

• sodium content of erythrocytes is elevated to 49.1 mEq/l from 12.4 mEq/l in wild-type controls, and the membrane cholesterol and phospholipid content is reduced

increased erythrocyte clearance ( J:162532 )

• average erythrocyte lifespan of 0.7 days

hemolysis ( J:162532 )

abnormal erythrocyte osmotic lysis ( J:162532 )

• erythrocytes are too easily damaged in handling to permit clear quantification of osmotic fragility

homeostasis/metabolism

increased blood urea nitrogen level ( J:44313 )

• mean BUN is increased from 30 mg/dL in wild-type controls to 39 in transfusion rescued adults

increased circulating bilirubin level ( J:44313 , J:162532 )

• serum bilirubin is increased from 0.3 mb/dL in wild-type controls to 1.9 mg/dL in transfusion rescued adults (J:44313)

decreased circulating glucose level ( J:44313 )

• mean serum glucose decreased from 206 mg/dL in wild-type controls to 151 mg/dL in transfusion rescued adults

increased circulating iron level ( J:44313 )

• mean serum iron increased from 150 ug/dL in wild-type controls to 350 ug/dL in transfusion rescued adults

abnormal cardiac thrombosis ( J:44313 , J:62355 )

• 15% of transfusion rescued adults are found to have large thrombi in the hearts, primarily in the mitral or left atrioventriclar valve, and some of the homozygotes with infarctions in the brain also have microthrombi close to the site of infarction (J:44313)

• 15% of homozygotes display cardiac thrombi (J:62355)

increased kidney iron level ( J:44313 )

• extraordinary amounts of iron accumulate in the adult kidney, particularly within the proximal convoluted tubules, and leads to green colored urine by 2 to 3 months of age and progresses to hydronephrosis and possible renal failure

immune system

enlarged spleen ( J:44313 , J:162532 )

• transfusion rescued adults have severe splenomegaly with expanded vasculature, areas of necrosis and fibrosis, and most of the splenic mass made of red pulp (J:44313)

increased spleen red pulp amount ( J:44313 )

glomerulonephritis ( J:44313 )

tubular nephritis ( J:44313 )

liver/biliary system

enlarged liver ( J:44313 , J:162532 )

• transfusion rescued adults have hepatomegaly with multiple sites of hematopoiesis, regions of fibrosis and necrosis, and expanded vasculature (J:44313)

jaundice ( J:162532 )

• although not jaundiced at birth, homozygotes develop severe jaundice within hours of being born

adipose tissue

decreased total body fat amount ( J:44313 )

• transfusion rescued adults have a nearly complete lack of fat pads

cardiovascular system

abnormal myocardium layer morphology ( J:44313 )

• 38% of transfusion rescued adults show sites of infarction in the myocardium in the ventricular or ventricular septal regions and 15% display large thrombi within the heart mainly in the mitral or left atrioventricular valve

enlarged heart ( J:44313 )

• transfusion rescued adults have enlarged hearts with dilated chambers and expanded vasculature

cardiac hypertrophy ( J:162532 )

renal/urinary system

renal tubular necrosis ( J:44313 )

increased kidney iron level ( J:44313 )

• extraordinary amounts of iron accumulate in the adult kidney, particularly within the proximal convoluted tubules, and leads to green colored urine by 2 to 3 months of age and progresses to hydronephrosis and possible renal failure

glomerulonephritis ( J:44313 )

tubular nephritis ( J:44313 )

hydronephrosis ( J:44313 )

urolithiasis ( J:44313 )

nervous system

decreased brain size ( J:44313 )

• the brains of transfusion rescued adults are smaller and vertically flatter than normal with the angle of the brain to the spinal cord decreased to approximately 120 degrees instead of the normal 135 to 140 degrees which makes the curvature of the cerebellum a sharper angle than normal

brain lesion ( J:44313 )

• some transfusion rescued adults have infarctions in the cerebrum, hippocampus, and cerebellum, which are generally unilateral, and microthrombi are sometimes found close to the infarction

cerebral infarct ( J:44313 )

reproductive system

infertility ( J:162532 )

growth/size/body

enlarged heart ( J:44313 )

• transfusion rescued adults have enlarged hearts with dilated chambers and expanded vasculature

cardiac hypertrophy ( J:162532 )

decreased body size ( J:162532 )

enlarged liver ( J:44313 , J:162532 )

• transfusion rescued adults have hepatomegaly with multiple sites of hematopoiesis, regions of fibrosis and necrosis, and expanded vasculature (J:44313)

enlarged spleen ( J:44313 , J:162532 )

• transfusion rescued adults have severe splenomegaly with expanded vasculature, areas of necrosis and fibrosis, and most of the splenic mass made of red pulp (J:44313)

Genotype
MGI:3575399

ht4

• Allelic Composition: Sptb^ja/Sptb⁺
• Genetic Background: 129/Sv-Sptb^ja

hematopoietic system

anemia ( J:5985 )

• heterozygotes have a mild, well compensated anemia, with the survival time of red cells slightly reduced

increased erythrocyte protoporphyrin level ( J:5985 )

• heterozygotes have a higher concentration of protoporphyrin in red cells than wild-type mice

homeostasis/metabolism

increased erythrocyte protoporphyrin level ( J:5985 )

• heterozygotes have a higher concentration of protoporphyrin in red cells than wild-type mice

Genotype
MGI:3767064

ht5

• Allelic Composition: Sptb^ja/Sptb⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * WB/Re

hematopoietic system

increased erythrocyte protoporphyrin level ( J:5985 )

• red blood cells show a higher concentration of protoporphyrin than wild-type

homeostasis/metabolism

increased erythrocyte protoporphyrin level ( J:5985 )

• red blood cells show a higher concentration of protoporphyrin than wild-type

Genotype
MGI:4819612

ht6

• Allelic Composition: Sptb^ja/Sptb⁺
• Genetic Background: (WB.129-Sptb^ja/J x B6.129-Sptb^ja/J)F1

hematopoietic system

increased erythrocyte clearance ( J:44313 )

• reduced erythrocyte lifespan

increased erythrocyte osmotic fragility ( J:44313 )

• erythrocytes from heterozygotes are more osmotically fragile