Phenotypes Associated with This Genotype

Genotype
MGI:2653207

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

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

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