Effects of an Rb mutation in the mouse

T Jacks, A Fazeli, EM Schmitt, RT Bronson, MA Goodell… - Nature, 1992 - nature.com
T Jacks, A Fazeli, EM Schmitt, RT Bronson, MA Goodell, RA Weinberg
Nature, 1992nature.com
The retinoblastoma gene is mutated in several types of human cancer and is the best
characterized of the tumour-suppressor genes. A mouse strain has been constructed in
which one allele of Rb is disrupted. These heterozygous animals are not predisposed to
retinoblastoma, but some display pituitary tumours arising from cells in which the wild-type
Rb allele is absent. Embryos homozygous for the mutation die between days 14 and 15 of
gestation, exhibiting neuronal cell death and defective erythropoiesis.
Abstract
The retinoblastoma gene is mutated in several types of human cancer and is the best characterized of the tumour-suppressor genes. A mouse strain has been constructed in which one allele of Rb is disrupted. These heterozygous animals are not predisposed to retinoblastoma, but some display pituitary tumours arising from cells in which the wild-type Rb allele is absent. Embryos homozygous for the mutation die between days 14 and 15 of gestation, exhibiting neuronal cell death and defective erythropoiesis.
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