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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cbfbtm1Tok
targeted mutation 1, Toshihisa Komori
MGI:1857593
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cbfbtm1Tok/Cbfbtm1Tok involves: 129P2/OlaHsd * C57BL/6J MGI:2167552
cx2
Cbfbtm1Tok/Cbfbtm1Tok
Tg(Gata1-Cbfb)1Tok/0
involves: 129P2/OlaHsd * C57BL/6J MGI:2653207


Genotype
MGI:2167552
hm1
Allelic
Composition
Cbfbtm1Tok/Cbfbtm1Tok
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfbtm1Tok mutation (0 available); any Cbfb mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die between E11.5 and E13.5 due to hemorrhage in the central nervous system

embryo

cardiovascular system
• seen in most E11.5-E12.5 mutants
• hemorrhage seen in midbrain parenchyma, forebrain ventricle, spinal canal, and the connective tissue of the head and below the spine above the second pharyngeal pouch
• hemorrhage also seen in peripheral ganglia, such as dorsal root ganglia, and in the facio-acoustic ganglia of the head
• sometimes hemorrhage along the spinal cord is seen in most E11.5-E12.5 mutants

hematopoietic system
• mutants lack definitive hematopoiesis in fetal liver
• erythroid and myeloid progenitors of definitive hematopoietic origin are not detected in the yolk sac

liver/biliary system
• at E11.5

nervous system
• seen in most E11.5-E12.5 mutants
• hemorrhage seen in midbrain parenchyma, forebrain ventricle, spinal canal, and the connective tissue of the head and below the spine above the second pharyngeal pouch
• hemorrhage also seen in peripheral ganglia, such as dorsal root ganglia, and in the facio-acoustic ganglia of the head
• sometimes hemorrhage along the spinal cord is seen in most E11.5-E12.5 mutants

integument




Genotype
MGI:2653207
cx2
Allelic
Composition
Cbfbtm1Tok/Cbfbtm1Tok
Tg(Gata1-Cbfb)1Tok/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfbtm1Tok mutation (0 available); any Cbfb mutation (27 available)
Tg(Gata1-Cbfb)1Tok mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die shortly after birth from respiratory failure

growth/size/body
• small chest wall
• dwarfism with shortened limbs

respiratory system

skeleton
• osteoblasts are immature at E18.5, indicating that differentiation is inhibited
• osteoblast development is almost completely blocked in calvarial culture
• maturation of chondrocytes into hypertrophic cells is delayed
• calcification is poor in endochondral bones, including the chondrocranium, sternum, ribs, vertebrae, and limbs
• endochondral ossification is retarded at E18.5, with more severely retarded ossification in femurs than tibiae
• poor intramembranous bone formation
• frontal and parietal bones and maxilla and mandible of the skull are only partially calcified at E18.5

hematopoietic system
• mutants exhibit a rudimentary thymus composed of epithelial cells
• no hematopoiesis in lymphoid lineage
• rudimentary thymus does not contain lymphoid cells
• B220+ B lymphocytes are absent in the liver
• thymuses virtually lack T cells and their progenitors
• small spleen composed primarily of epithelial cells and erythroid lineage cells with no B lymphocytes

immune system
• mutants exhibit a rudimentary thymus composed of epithelial cells
• rudimentary thymus does not contain lymphoid cells
• B220+ B lymphocytes are absent in the liver
• thymuses virtually lack T cells and their progenitors
• small spleen composed primarily of epithelial cells and erythroid lineage cells with no B lymphocytes

limbs/digits/tail

cardiovascular system
N
• hemorrhaging is not observed as in Cbfb null mice

cellular
• osteoblasts are immature at E18.5, indicating that differentiation is inhibited
• osteoblast development is almost completely blocked in calvarial culture

endocrine/exocrine glands
• mutants exhibit a rudimentary thymus composed of epithelial cells





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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory