Variable expression of Dkc1 mutations in mice.
Genesis
; 47(6): 366-73, 2009 Jun.
Article
em En
| MEDLINE
| ID: mdl-19391112
ABSTRACT
In humans mutations in DKC1, cause the rare bone marrow failure syndrome dyskeratosis congenita. We have used gene targeting to produce mouse ES cells with Dkc1 mutations that cause DC when in humans. The mutation A353V, the most common human mutation, causes typical DC to very severe DC in humans. Male chimeric mice carrying this mutation do not pass the mutated allele to their offspring. The mutation G402E accounts for a single typical case of DC in a human family. The allele carrying this mutation was transmitted to the offspring with high efficiency. Expression of RNA and protein was reduced compared to wild type animals, but no abnormalities of growth and development or in blood values were found in mutant mice. Thus Dkc1 mutations have variable expression in mice, as in humans.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Marcação de Genes
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Proteínas de Ciclo Celular
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Mutação de Sentido Incorreto
Limite:
Animals
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Female
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Humans
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Male
Idioma:
En
Revista:
Genesis
Ano de publicação:
2009
Tipo de documento:
Article