RGD Reference Report - Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. - Rat Genome Database

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Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1.

Authors: Kurihara, Y  Kurihara, H  Suzuki, H  Kodama, T  Maemura, K  Nagai, R  Oda, H  Kuwaki, T  Cao, WH  Kamada, N 
Citation: Kurihara Y, etal., Nature 1994 Apr 21;368(6473):703-10.
RGD ID: 734913
Pubmed: PMID:8152482   (View Abstract at PubMed)
DOI: DOI:10.1038/368703a0   (Journal Full-text)

The endothelin-1 (ET-1) gene was disrupted in mouse embryonic stem cells by homologous recombination to generate mice deficient in ET-1. These ET-1-/- homozygous mice die of respiratory failure at birth and have morphological abnormalities of the pharyngeal-arch-derived craniofacial tissues and organs. ET-1+/- heterozygous mice, which produce lower levels of ET-1 than wild-type mice, develop elevated blood pressure. These results suggest that ET-1 is essential for normal mouse development and may also play a physiological role in cardiovascular homeostasis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Craniofacial Abnormalities  ISOEdn1 (Mus musculus)734913; 734913 RGD 
Craniofacial Abnormalities  IMP 734913 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Edn1  (endothelin 1)

Genes (Mus musculus)
Edn1  (endothelin 1)

Genes (Homo sapiens)
EDN1  (endothelin 1)


Additional Information