Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis.
Hum Mol Genet
; 7(3): 549-55, 1998 Mar.
Article
en En
| MEDLINE
| ID: mdl-9467016
ABSTRACT
The mouse X-linked mutants lined and stripey are associated with lethality of affected males in utero and a striping of the coat in carrier females. We demonstrate that the underlying mutations are nested deletions which lie in the Phex-Amelx chromosomal segment conserved between man and mouse. The lined deletion contains less than approximately 0.7 cM of genetic material and includes the growth factor-regulated protein kinase gene, Rsk2. Stripey carries a larger deletion which removes approximately 2.0 cM of genetic material, including Rsk2 and the pyruvate dehydrogenase E1alpha subunit gene, Pdha1 . Since Coffin-Lowry syndrome and neonatal lactic acidosis are associated with mutations in the human homologues of Rsk2 and Pdha1 respectively, lined and stripey provide models for gene deficiencies in these disorders.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Complejo Piruvato Deshidrogenasa
/
Cromosoma X
/
Anomalías Múltiples
/
Acidosis Láctica
/
Eliminación de Gen
/
Proteínas Quinasas S6 Ribosómicas
Tipo de estudio:
Prognostic_studies
Límite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Mol Genet
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Año:
1998
Tipo del documento:
Article
País de afiliación:
Reino Unido