Phenotypes associated with this allele
Allelic
Composition |
Cbfbtm1Spe/Cbfbtm1Spe
|
|
Genetic
Background |
either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6) |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfbtm1Spe mutation
(0 available);
any
Cbfb mutation
(36 available)
|
|
|
mortality/aging
|
|
• homozygotes die between E11.5 and E14.5
|
cardiovascular system
|
|
• at E10.5, apoptosis and perivascular edema appear to be associated with sprouting and/or anastomosing capillaries of the affected region
|
|
|
• at E10.5, homozygotes exhibit extensive hemorrhages predominantly in the CNS
|
|
|
• at E11.5, homozygotes display segmental bleeds in the areas corresponding to the VII/VIII cranial nerve complex
|
|
|
• at E11.5, homozygotes exhibit hemorrhages in the lateral, third and fourth ventricles
|
|
|
• at E11.5, homozygotes display hemorrhagic lesions in intersegmental regions along the presumptive spinal cord
|
nervous system
|
|
• at E11.5, homozygotes display segmental bleeds in the areas corresponding to the VII/VIII cranial nerve complex
|
|
|
• at E11.5, homozygotes exhibit hemorrhages in the lateral, third and fourth ventricles
|
|
|
• at E11.5, homozygotes display hemorrhagic lesions in intersegmental regions along the presumptive spinal cord
|
cellular
|
|
• apoptosis or necrosis appears to precede hemorrhaging in affected sites
• at E10.5, homozygotes exhibit increased apoptosis in hemorrhagic lesions of the CNS and in cephalic mesodermal tissue
|
homeostasis/metabolism
hematopoietic system
|
|
• homozygotes exhibit impaired fetal liver hematopoiesis; in contrast, primitive yolk-sac derived hematopoiesis is unaffected
• at E12.5, mutant fetal livers lack blood precursor cells in the sinusoids; instead, primary nucleated yolk-sac derived erythrocytes are present and only a few hematopoietic precursors are found
|
|
|
• at E12.5, the number of blast-like progenitors of definitive erythroid and myeloid cells is ~100-fold lower in mutant livers relative to wild-type
|
|
|
• at E12.5, homozygotes contain severely reduced definitive erythroblasts in peripheral blood
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfbtm1Spe mutation
(0 available);
any
Cbfb mutation
(36 available)
Cbfbtm2.1Spe mutation
(0 available);
any
Cbfb mutation
(36 available)
|
|
|
mortality/aging
|
|
• die within the first day after birth although born at normal Mendelian ratios
|
skeleton
|
|
• reduced primary ossification and delayed appearance of secondary ossification centers
• increased severity
|
|
|
• delayed ossification of ribs, metacarpal/metatarsal bones, phalanges, pelvis, sternum, vertebrae
• hypoplastic clavicles, scapulae, calvaria, maxillae, mandibles
• increased severity
|
hematopoietic system
|
|
• lower percentage of double positive T cells and absolute numbers reduced 100 fold
• increased levels of CD4 expressing cells
|
|
|
• small size
• reduced cellularity
|
|
|
• transition from early T-lineage to DN2 stage severely impaired
• DN2 to DN3 transition severely impaired
|
|
|
• lower percentage of double positive T cells and absolute numbers reduced 100 fold
|
|
|
• half the number of hematopoietic cells in the fetal liver at E12.5
• reversed at E17.5
|
|
|
• colonies in culture are denser with smaller cells
|
|
|
• reduced numbers of platelets both in culture and in the circulation
|
|
|
• increased levels of CD4 expressing T cells but not typical CD4+ cells
|
|
|
• 4-5 fold reduction in CD45+ numbers
• 10-20 fold reduction in monocyte/granulocytes
• CD19+ B cells and Ter119 erythrocyte numbers are reduced but proportionally normal
|
immune system
|
|
• lower percentage of double positive T cells and absolute numbers reduced 100 fold
• increased levels of CD4 expressing cells
|
|
|
• small size
• reduced cellularity
|
|
|
• transition from early T-lineage to DN2 stage severely impaired
• DN2 to DN3 transition severely impaired
|
|
|
• lower percentage of double positive T cells and absolute numbers reduced 100 fold
|
|
|
• increased levels of CD4 expressing T cells but not typical CD4+ cells
|
|
|
• 4-5 fold reduction in CD45+ numbers
• 10-20 fold reduction in monocyte/granulocytes
• CD19+ B cells and Ter119 erythrocyte numbers are reduced but proportionally normal
|
craniofacial
limbs/digits/tail
endocrine/exocrine glands
|
|
• lower percentage of double positive T cells and absolute numbers reduced 100 fold
• increased levels of CD4 expressing cells
|
|
|
• small size
• reduced cellularity
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfbtm1Spe mutation
(0 available);
any
Cbfb mutation
(36 available)
Tg(Tek-GFP/Cbfb)1Spe mutation
(0 available)
|
|
|
cellular
|
|
• bone collar shows few differentiating osteoblasts
|
mortality/aging
craniofacial
hematopoietic system
|
|
• thymus is small and contains 50% fewer cells than in wild-type
|
|
|
• fetal livers contain 50% as many colony forming unit (CFU)-granulocyte/erythroid/monocyte/macrophage (GEMM) progenitors as do wild-type
|
|
|
• overall increase in the proportion of red blood cell precursors from 38% to 79% of nucleated cells at E17.5
|
|
|
• few mature myeloid cells are present
|
|
|
• ratio of erythroid precursors to myeloid precursors is increased from 0.48 in wild-type fetuses to 1.22 in mutant fetuses at E17.5
|
|
|
• increase in numbers of single CD4+ cells in thymuses
|
|
|
• 2-fold increase in hematopoietic progenitors
|
|
|
• spleens are hypocellular, but overall structure and organization is normal
|
|
|
• fewer B220+ cells, GR-1+ neutrophils and Mac-1+ cells in E17.5 spleens
|
immune system
|
|
• thymus is small and contains 50% fewer cells than in wild-type
|
|
|
• few mature myeloid cells are present
|
|
|
• increase in numbers of single CD4+ cells in thymuses
|
|
|
• spleens are hypocellular, but overall structure and organization is normal
|
|
|
• fewer B220+ cells, GR-1+ neutrophils and Mac-1+ cells in E17.5 spleens
|
skeleton
|
|
• bone collar shows few differentiating osteoblasts
|
|
|
• delay in chondrocyte maturation
|
|
|
• ossification of the limbs, ribs and vertebra is delayed at E17.5
|
|
|
• intramembranous bone formation is initiated but is either prematurely terminated or delayed at an early stage of osteoblast differentiation
|
vision/eye
|
|
• delay in or incomplete closure of the eyelids
|
digestive/alimentary system
limbs/digits/tail
liver/biliary system
|
|
• decrease in the percentage of CD19+ and B220+ B cells, GR1+ neutrophils and Mac-1+ cells in fetal liver
|
endocrine/exocrine glands
|
|
• thymus is small and contains 50% fewer cells than in wild-type
|
growth/size/body
Allelic
Composition |
Cbfbtm1Spe/Cbfbtm1Spe
Tg(Tek-GFP/Cbfb)2Spe/0
|
|
Genetic
Background |
either: (involves: 129S4/SvJae * BALB/c * CD-1 * Swiss Webster) or (involves: 129S4/SvJae * C57BL/6 * CD-1 * Swiss Webster) |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfbtm1Spe mutation
(0 available);
any
Cbfb mutation
(36 available)
Tg(Tek-GFP/Cbfb)2Spe mutation
(0 available)
|
|
|
cellular
|
|
• bone collar shows few differentiating osteoblasts
|
mortality/aging
craniofacial
hematopoietic system
|
|
• thymus is small and contains 50% fewer cells than in wild-type
|
|
|
• fetal livers contain 50% as many colony forming unit (CFU)-granulocyte/erythroid/monocyte/macrophage (GEMM) progenitors as do wild-type
|
|
|
• overall increase in the proportion of red blood cell precursors from 38% to 79% of nucleated cells at E17.5
|
|
|
• few mature myeloid cells are present
|
|
|
• ratio of erythroid precursors to myeloid precursors is increased from 0.48 in wild-type fetuses to 1.22 in mutant fetuses at E17.5
|
|
|
• increase in numbers of single CD4+ cells in thymuses
|
|
|
• 2-fold increase in hematopoietic progenitors
|
|
|
• spleens are hypocellular, but overall structure and organization is normal
|
|
|
• fewer B220+ cells, GR-1+ neutrophils and Mac-1+ cells in E17.5 spleens
|
immune system
|
|
• thymus is small and contains 50% fewer cells than in wild-type
|
|
|
• few mature myeloid cells are present
|
|
|
• increase in numbers of single CD4+ cells in thymuses
|
|
|
• spleens are hypocellular, but overall structure and organization is normal
|
|
|
• fewer B220+ cells, GR-1+ neutrophils and Mac-1+ cells in E17.5 spleens
|
skeleton
|
|
• bone collar shows few differentiating osteoblasts
|
|
|
• delay in chondrocyte maturation
|
|
|
• ossification of the limbs, ribs and vertebra is delayed at E17.5
|
|
|
• intramembranous bone formation is initiated but is either prematurely terminated or delayed at an early stage of osteoblast differentiation
|
vision/eye
|
|
• delay in or incomplete closure of the eyelids
|
digestive/alimentary system
limbs/digits/tail
liver/biliary system
|
|
• decrease in the percentage of CD19+ and B220+ B cells, GR1+ neutrophils and Mac-1+ cells in fetal liver
|
endocrine/exocrine glands
|
|
• thymus is small and contains 50% fewer cells than in wild-type
|
growth/size/body
Analysis Tools