Phenotypes associated with this allele

• Allele Symbol: Cbfb^tm1Tok
• Allele Name: targeted mutation 1, Toshihisa Komori
• Allele ID: MGI:1857593
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cbfb^tm1Tok/Cbfb^tm1Tok	involves: 129P2/OlaHsd * C57BL/6J	MGI:2167552
cx2	Cbfb^tm1Tok/Cbfb^tm1Tok Tg(Gata1-Cbfb)1Tok/0	involves: 129P2/OlaHsd * C57BL/6J	MGI:2653207

Genotype
MGI:2167552

hm1

• Allelic Composition: Cbfb^tm1Tok/Cbfb^tm1Tok
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:36250 )

• die between E11.5 and E13.5 due to hemorrhage in the central nervous system

embryo

pale yolk sac ( J:36250 )

cardiovascular system

intracranial hemorrhage ( J:36250 )

• 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

spinal hemorrhage ( J:36250 )

• sometimes hemorrhage along the spinal cord is seen in most E11.5-E12.5 mutants

hematopoietic system

abnormal definitive hematopoiesis ( J:36250 )

• 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

pale liver ( J:36250 )

• at E11.5

nervous system

intracranial hemorrhage ( J:36250 )

• 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

spinal hemorrhage ( J:36250 )

• sometimes hemorrhage along the spinal cord is seen in most E11.5-E12.5 mutants

integument

pallor ( J:36250 )

Genotype
MGI:2653207

cx2

• Allelic Composition: Cbfb^tm1Tok/Cbfb^tm1Tok; Tg(Gata1-Cbfb)1Tok/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

perinatal lethality, complete penetrance ( J:80668 )

• die shortly after birth from respiratory failure

growth/size/body

abnormal chest morphology ( J:80668 )

• small chest wall

proportional dwarf ( J:80668 )

• dwarfism with shortened limbs

respiratory system

respiratory failure ( J:80668 )

skeleton

arrested osteoblast differentiation ( J:80668 )

• osteoblasts are immature at E18.5, indicating that differentiation is inhibited

• osteoblast development is almost completely blocked in calvarial culture

absent clavicle ( J:80668 )

abnormal long bone hypertrophic chondrocyte zone ( J:80668 )

• maturation of chondrocytes into hypertrophic cells is delayed

abnormal bone ossification ( J:80668 )

delayed endochondral bone ossification ( J:80668 )

• 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

abnormal intramembranous bone ossification ( J:80668 )

• poor intramembranous bone formation

• frontal and parietal bones and maxilla and mandible of the skull are only partially calcified at E18.5

hematopoietic system

small thymus ( J:80668 )

• mutants exhibit a rudimentary thymus composed of epithelial cells

abnormal definitive hematopoiesis ( J:80668 )

• no hematopoiesis in lymphoid lineage

decreased lymphocyte cell number ( J:80668 )

• rudimentary thymus does not contain lymphoid cells

• B220+ B lymphocytes are absent in the liver

absent T cells ( J:80668 )

• thymuses virtually lack T cells and their progenitors

small spleen ( J:80668 )

• small spleen composed primarily of epithelial cells and erythroid lineage cells with no B lymphocytes

immune system

small thymus ( J:80668 )

• mutants exhibit a rudimentary thymus composed of epithelial cells

decreased lymphocyte cell number ( J:80668 )

• rudimentary thymus does not contain lymphoid cells

• B220+ B lymphocytes are absent in the liver

absent T cells ( J:80668 )

• thymuses virtually lack T cells and their progenitors

small spleen ( J:80668 )

• small spleen composed primarily of epithelial cells and erythroid lineage cells with no B lymphocytes

limbs/digits/tail

short limbs ( J:80668 )

cardiovascular system

cardiovascular system phenotype ( J:80668 )

N • hemorrhaging is not observed as in Cbfb null mice

cellular

arrested osteoblast differentiation ( J:80668 )

• osteoblasts are immature at E18.5, indicating that differentiation is inhibited

• osteoblast development is almost completely blocked in calvarial culture

endocrine/exocrine glands

small thymus ( J:80668 )

• mutants exhibit a rudimentary thymus composed of epithelial cells