Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.
Nat Genet
; 8(3): 256-63, 1994 Nov.
Article
en En
| MEDLINE
| ID: mdl-7874168
ABSTRACT
Mutations in the mouse microphthalmia (mi) gene affect the development of a number of cell types including melanocytes, osteoclasts and mast cells. Recently, mutations in the human mi gene (MITF) were found in patients with Waardenburg Syndrome type 2 (WS2), a dominantly inherited syndrome associated with hearing loss and pigmentary disturbances. We have characterized the molecular defects associated with eight murine mi mutations, which vary in both their mode of inheritance and in the cell types they affect. These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2.
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Banco de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
/
Síndrome de Waardenburg
/
Microftalmía
/
Regulación del Desarrollo de la Expresión Génica
/
Modelos Animales de Enfermedad
/
Proteínas de Unión al ADN
/
Alelos
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1994
Tipo del documento:
Article