Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6.129-Spnb1ja/J    (Changed: 05-DEC-12 ) C57BL/6J-Spnb1ja/J    (Changed: 13-MAR-08 ) C57BL/6J-Spnb1ja/+    (Changed: 15-DEC-04 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N81p Generation Definitions

Description
Mice homozygous for the jaundiced mutation are very pale but not jaundiced at birth, but develop severe jaundice within hours of being born. They have severe microcytic hemolytic anemia, and most die by 4 days of age, even on a mixed background, but a single blood transfusion in the first days of life can foster survival of homozygotes. On a mixed C57BL/6J x WB/Re background transfused homozygotes generally survive to adulthood and are reported to have a mean life expectancy of 3.7 months. The hemolytic anemia phenotype of these adults includes decreased hematocrit, very low red blood cell count, reticulocytosis, microcytosis, bilirubinemia, extensive iron accumulation in the kidney, elevated blood urea nitrogen, hydronephrosis, hepatomegaly, splenomegaly of predominantly red pulp, and cardiomegaly, but less severe thrombosis than is found in mice homozygous for the mutation spherocytosis (Spna1^sph). The erythrocytes are extremely fragile and have a very short lifespan and there is extramedullary hematopoiesis. Heterozygotes have a mild, well compensated anemia and the erythrocytes have a higher concentration of protoporphyrin, increased osmotic fragility, and a slightly reduced lifespan.

Development
The jaundiced mutation, first described in 1959, arose spontaneously at The Jackson Laboratory in a 129/Sv inbred strain that was homozygous for pink-eyed dilution and segregating for albino and chinchilla. Jaundiced was backcrossed separately onto the C57BL/6J and WB/Re backgrounds by Seldon Bernstein and each congenic strain reached generation N27 in 1968. This strain reached generation N39 in 1978 and was later passed to Dr. Jane Barker. In 2001 embryos were generated for cryopreservation from C57BL/6J females bred to heterozygous males at generation N80.

Related Strains

Strains carrying   Sptb^ja allele

000452

WB.129-Sptbja/J

View Strains carrying   Sptb^ja     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Spectrin, Beta, Erythrocytic; SPTB

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Sptb^ja/Sptb⁺

        129/Sv-Sptb^ja

• hematopoietic system phenotype
• anemia
  • heterozygotes have a mild, well compensated anemia, with the survival time of red cells slightly reduced   (MGI Ref ID J:5985)
• increased erythrocyte protoporphyrin level
  • heterozygotes have a higher concentration of protoporphyrin in red cells than wild-type mice   (MGI Ref ID J:5985)
• homeostasis/metabolism phenotype
• increased erythrocyte protoporphyrin level
  • heterozygotes have a higher concentration of protoporphyrin in red cells than wild-type mice   (MGI Ref ID J:5985)

Sptb^ja/Sptb⁺

        involves: 129/Sv * C57BL/6J * WB/Re

• hematopoietic system phenotype
• increased erythrocyte protoporphyrin level
  • red blood cells show a higher concentration of protoporphyrin than wild-type   (MGI Ref ID J:5985)
• homeostasis/metabolism phenotype
• increased erythrocyte protoporphyrin level
  • red blood cells show a higher concentration of protoporphyrin than wild-type   (MGI Ref ID J:5985)

Sptb^ja/Sptb⁺

        (WB.129-Sptb^ja/J x B6.129-Sptb^ja/J)F1

• hematopoietic system phenotype
• abnormal erythrocyte osmotic lysis
  • erythrocytes from heterozygotes are more osmotically fragile   (MGI Ref ID J:44313)
• increased erythrocyte clearance
  • reduced erythrocyte lifespan   (MGI Ref ID J:44313)

Sptb^ja/Sptb^ja

        129/Sv-Sptb^ja

• mortality/aging
• partial neonatal lethality
  • most homozygotes die within a day or two of birth, but a few survive to adulthood   (MGI Ref ID J:7501)
• partial prenatal lethality
  • incomplete penetrance   (MGI Ref ID J:305)
• cardiovascular system phenotype
• enlarged heart
  • evident at E15   (MGI Ref ID J:305)
• hematopoietic system phenotype
• abnormal reticulocyte morphology
  • spectrin does not accumulate in the reticulocyte plasma membrane   (MGI Ref ID J:7501)
• • reticulocytosis   (MGI Ref ID J:305)
• anisocytosis   (MGI Ref ID J:305)
• enlarged spleen
  • evident at E15   (MGI Ref ID J:305)
• hemolytic anemia
  • evident as early as E15; about half the normal number of red cells are present   (MGI Ref ID J:305)
  • there is considerable erythrocyte destruction and a compensating release of immature blood cells into the circulation   (MGI Ref ID J:305)
• poikilocytosis   (MGI Ref ID J:305)
• immune system phenotype
• enlarged spleen
  • evident at E15   (MGI Ref ID J:305)
• liver/biliary system phenotype
• enlarged liver
  • evident at P2   (MGI Ref ID J:305)
• jaundice
  • developed within hours after birth   (MGI Ref ID J:305)
• multifocal hepatic necrosis
  • evident at P2   (MGI Ref ID J:305)

Sptb^ja/Sptb^ja

        involves: 129/Sv * C57BL/6J * WB/Re

• hematopoietic system phenotype
• increased erythrocyte protoporphyrin level
  • red blood cell protoporphyrin levels are about 10 times higher than in controls   (MGI Ref ID J:5985)
• homeostasis/metabolism phenotype
• increased erythrocyte protoporphyrin level
  • red blood cell protoporphyrin levels are about 10 times higher than in controls   (MGI Ref ID J:5985)

Sptb^ja/Sptb^ja

        (WB.129-Sptb^ja/J x B6.129-Sptb^ja/J)F1

• mortality/aging
• partial neonatal lethality
  • most homozygotes die within 48 hours of birth   (MGI Ref ID J:162532)
• partial postnatal lethality
  • 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   (MGI Ref ID J:44313)
  • fewer than 13% of homozygotes survive to weaning   (MGI Ref ID J:162532)
• premature death
  • 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   (MGI Ref ID J:44313)
• hematopoietic system phenotype
• abnormal erythrocyte morphology
  • 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   (MGI Ref ID J:62355)
• • anisopoikilocytosis   (MGI Ref ID J:162532)
  • decreased cellular hemoglobin content
    • decreased to 18.6% in transfusion resuced adults compared to 29.8% in controls   (MGI Ref ID J:44313)
  • decreased erythrocyte cell number
    • transfusion rescued adults have very low red blood cell count, 4,200,000/ul instead of 9,150,000/ul   (MGI Ref ID J:44313)
  • • low mean erythrocyte cell number
      • approximately half of normal numbers   (MGI Ref ID J:162532)
  • decreased hematocrit
    • transfusion rescued adult homozygotes have a mean hematocrit of 21.6% compared with 45% in wild-type controls   (MGI Ref ID J:44313)
    • mean hematocrit is reduced to 24.7% from 50.4% in wild-type controls   (MGI Ref ID J:162532)
  • decreased hemoglobin content
    • greatly reduced hemoglobin of 4 g/dL in transfusion rescued adults compared to 13.5 g/dL in controls   (MGI Ref ID J:44313)
    • mean hemoglobin content is reduced to 4.85 g/dl from 15.64 g/dl in wild-type controls   (MGI Ref ID J:162532)
  • hemolytic anemia   (MGI Ref ID J:162532)
  • increased nucleated erythrocyte cell number
    • more than 10 times normal levels   (MGI Ref ID J:162532)
  • microcytosis
    • the percentage of erythroid cells that are microcytes is much larger than in wild-type controls   (MGI Ref ID J:62355)
  • poikilocytosis   (MGI Ref ID J:162532)
  • • schistocytosis   (MGI Ref ID J:162532)
• abnormal erythrocyte physiology
  • 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   (MGI Ref ID J:162532)
• • hemolysis   (MGI Ref ID J:162532)
  • • abnormal erythrocyte osmotic lysis
      • erythrocytes are too easily damaged in handling to permit clear quantification of osmotic fragility   (MGI Ref ID J:162532)
  • increased erythrocyte clearance
    • average erythrocyte lifespan of 0.7 days   (MGI Ref ID J:162532)
• enlarged spleen   (MGI Ref ID 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   (MGI Ref ID J:44313)
• extramedullary hematopoiesis   (MGI Ref ID J:162532)
• increased spleen red pulp amount   (MGI Ref ID J:44313)
• reticulocytosis
  • approximately 90% reticulocytes   (MGI Ref ID J:44313)
  • mean percent of reticulocytes is substantially increased from 3.16% in wild-type controls to 91.4%   (MGI Ref ID J:162532)
• homeostasis/metabolism phenotype
• decreased circulating glucose level
  • mean serum glucose decreased from 206 mg/dL in wild-type controls to 151 mg/dL in transfusion rescued adults   (MGI Ref ID J:44313)
• increased blood urea nitrogen level
  • mean BUN is increased from 30 mg/dL in wild-type controls to 39 in transfusion rescued adults   (MGI Ref ID J:44313)
• increased circulating bilirubin level   (MGI Ref ID J:162532)
  • serum bilirubin is increased from 0.3 mb/dL in wild-type controls to 1.9 mg/dL in transfusion rescued adults   (MGI Ref ID J:44313)
• increased circulating iron level
  • mean serum iron increased from 150 ug/dL in wild-type controls to 350 ug/dL in transfusion rescued adults   (MGI Ref ID J:44313)
• increased kidney iron level
  • 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   (MGI Ref ID J:44313)
• thrombosis
  • 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   (MGI Ref ID J:44313)
  • 15% of homozygotes display cardiac thrombi   (MGI Ref ID J:62355)
• immune system phenotype
• enlarged spleen   (MGI Ref ID 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   (MGI Ref ID J:44313)
• glomerulonephritis   (MGI Ref ID J:44313)
• increased spleen red pulp amount   (MGI Ref ID J:44313)
• tubular nephritis   (MGI Ref ID J:44313)
• liver/biliary system phenotype
• enlarged liver   (MGI Ref ID J:162532)
  • transfusion rescued adults have hepatomegaly with multiple sites of hematopoiesis, regions of fibrosis and necrosis, and expanded vasculature   (MGI Ref ID J:44313)
• jaundice
  • although not jaundiced at birth, homozygotes develop severe jaundice within hours of being born   (MGI Ref ID J:162532)
• adipose tissue phenotype
• decreased total body fat amount
  • transfusion rescued adults have a nearly complete lack of fat pads   (MGI Ref ID J:44313)
• cardiovascular system phenotype
• abnormal myocardium layer morphology
  • 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   (MGI Ref ID J:44313)
• enlarged heart
  • transfusion rescued adults have enlarged hearts with dilated chambers and expanded vasculature   (MGI Ref ID J:44313)
• • cardiac hypertrophy   (MGI Ref ID J:162532)
• renal/urinary system phenotype
• glomerulonephritis   (MGI Ref ID J:44313)
• hydronephrosis   (MGI Ref ID J:44313)
• increased kidney iron level
  • 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   (MGI Ref ID J:44313)
• renal tubular necrosis   (MGI Ref ID J:44313)
• tubular nephritis   (MGI Ref ID J:44313)
• urolithiasis   (MGI Ref ID J:44313)
• nervous system phenotype
• abnormal brain morphology
  • 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   (MGI Ref ID J:44313)
• • decreased brain size
    • 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   (MGI Ref ID J:44313)
• reproductive system phenotype
• infertility   (MGI Ref ID J:162532)
• growth/size phenotype
• decreased body size   (MGI Ref ID J:162532)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Sptb^ja related

Developmental Biology Research
Perinatal Lethality
      Homozygous

Hematological Research
Anemia, Iron Deficiency and Transport Defects
      hemolytic
Jaundice

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Sptbja
Allele Name		jaundiced
Allele Type		Spontaneous
Common Name(s)		ja;
Strain of Origin		129/Sv
Gene Symbol and Name		Sptb, spectrin beta, erythrocytic
Chromosome		12
Gene Common Name(s)		AI842465; D330027P03Rik; EL3; Gm1301; HS2; HSPTB1; LOC383567; RIKEN cDNA D330027P03 gene; SPH2; Spnb-1; Spnb1; brain erythroid spectrin (235E); expressed sequence AI842465; gene model 1301, (NCBI); ja; jaundiced; spectrin R; spectrin beta 1;
Molecular Note		A C-to-T transition mutation is present in the mutant transcript and produces a premature stop codon from an arginine codon in mRNA encoding repeat 9 of beta-spectrin at amino acid position 1160. [MGI Ref ID J:21284]

Genotyping

Genotyping Information

Genotyping Protocols

Spnb1^jaPYRO, Pyrosequencing
Spnb1^ja, Sanger sequencing

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Bernstein SE. 1980. Inherited hemolytic disease in mice: a review and update. Lab Anim Sci 30(2 Pt 1):197-205. [PubMed: 6763106]  [MGI Ref ID J:162532]

Kaysser TM; Wandersee NJ; Bronson RT; Barker JE. 1997. Thrombosis and secondary hemochromatosis play major roles in the pathogenesis of jaundiced and spherocytic mice, murine models for hereditary spherocytosis. Blood 90(11):4610-9. [PubMed: 9373273]  [MGI Ref ID J:44313]

Additional References

Sptb^ja related

Bernstein SE. 1969. Hereditary disorders of the rodent erythron. In: Genetics in Laboratory Animal Medicine. Natl Acad Sci Publ, Washington, DC.  [MGI Ref ID J:30699]

Bloom ML; Kaysser TM; Birkenmeier CS; Barker JE. 1994. The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin. Proc Natl Acad Sci U S A 91(21):10099-103. [PubMed: 7937844]  [MGI Ref ID J:21284]

Bodine DM 4th; Birkenmeier CS; Barker JE. 1984. Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes. Cell 37(3):721-9. [PubMed: 6234993]  [MGI Ref ID J:7501]

Peters LL; Barker JE. 2001. Spontaneous and targeted mutations in erthrocyte membrane skeleton genes: mouse models of heredity spherocytosis. In: Hematopoiesis A Developmental Approach. Oxford University Press.  [MGI Ref ID J:88022]

Russell ES. 1970. Abnormalities of erythropoiesis associated with mutant genes in mice. In: Regulation of Hematopoiesis. Appleton-Century-Crofts, New York.  [MGI Ref ID J:27511]

Russell ES; Bernstein SE. 1966. Blood and Blood Formation. In: Biology of the Laboratory Mouse. McGraw Hill, New York.  [MGI Ref ID J:24829]

Sassa S; Bernstein SE. 1978. Studies of erythrocyte protoporphyrin in anemic mutant mice: use of a modified hematofluorometer for the detection of heterozygotes for hemolytic disease. Exp Hematol 6(5):479-87. [PubMed: 658175]  [MGI Ref ID J:5985]

Stevens LC; Mackensen JA; Bernstein SE. 1959. A mutation causing neonatal jaundice in the house mouse J Hered 50:35-9.  [MGI Ref ID J:305]

Wandersee NJ; Tait JF; Barker JE. 2000. Erythroid phosphatidyl serine exposure is not predictive of thrombotic risk in mice with hemolytic anemia Blood Cells Mol Dis 26(1):75-83. [PubMed: 10772878]  [MGI Ref ID J:62355]

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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