Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sf3b1tm1Hko mutation
(1 available);
any
Sf3b1 mutation
(72 available)
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mortality/aging
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• homozygous null embryos died during preimplantation around the 16- to 32-cell stage
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Allelic
Composition |
Sf3b1tm1Hko/Sf3b1+
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Genetic
Background |
B6.Cg-Sf3b1tm1Hko |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sf3b1tm1Hko mutation
(1 available);
any
Sf3b1 mutation
(72 available)
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skeleton
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• 29% of heterozygotes had a prominent spinous process, characteristic for the second thoracic vertebra (T2), incorrectly associated with T1, suggesting a T1 to T2 transformation
• 6% of heterozygotes had only 12 ribs, indicating T13 to L1 transformation
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• 27% of heterozygotes had the seventh cervical vertebra (C7) with incomplete ectopic ribs, either unilaterally or bilaterally fused with the first thoracic rib, indicating transformations of C7 toward the first thoracic vertebra (T1)
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• 88% had five lumbar vertebrae, indicating an L6 to S1 transformation
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Allelic
Composition |
Sf3b1tm1Hko/Sf3b1+
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Genetic
Background |
Not Specified |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sf3b1tm1Hko mutation
(1 available);
any
Sf3b1 mutation
(72 available)
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behavior/neurological
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• some mice start to show a decline in overall activity after 12 months of age, showing reduced movements and difficulty walking
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hematopoietic system
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• extramedullary hematopoiesis in the spleen, with hematopoietic elements, increased megakaryocytes with hyperchromatic nuclei, increased hemosiderin deposits and signs of fibrosis
• however, no hepatomegaly or microscopic abnormalities in the liver are seen
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• bone marrow cells show dyserythropoietic features including nuclear budding or nuclear irregularity
• occasionally ring sideroblasts are seen in the bone marrow
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• mice tend to have lower red blood cell levels at 6, 8, 9, 11, and 12 months but statistically significant difference is seen at 11 and 12 months
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• mice tend to have lower hemoglobin levels at 6, 8, 9, 11, and 12 months but statistically significant difference is seen at 11 months
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• mice exhibit higher mean corpuscular volume at 6 to 12 months of age, indicating macrocytic anemia
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• platelet counts increase at 6 months until 12 months of age with a significant difference at 10 months
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• spleen shows expansion of the red pulp
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immune system
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• spleen shows expansion of the red pulp
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reproductive system
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• fertility of breeding pairs drops dramatically after 6 months of age and no progeny is produced by mice of this age or older
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skeleton
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• posterior vertebral transformations at the cervico-thoracic transitional zone caused by the Sf3b1 mutation were completely restored in double heterozygous mice
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skeleton
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• the detachment of the ribs of T7 from the sternum, representing an anterior shift of the sternum of one segment width
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• the formation of an additional ossification center in the sternum
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• 75% exhibit T1 to T2 transformation
• 50% exhibit T13 to L1 transformation
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• 45% exhibit C7 to T1 transformation, and showed ectopic ribs associated with C7 mimicking perfect ribs and forming joints with the anteriorly shifted sternum
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• 100% exhibit an L6 to S1 transformation
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Analysis Tools
