|Institutional Source||Beutler Lab|
|Gene Name||endothelin 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4685 (G1)|
|Chromosomal Location||42301476-42307990 bp(+) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||A to T at 42305253 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000021796 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021796]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.444|
|Coding Region Coverage||
|Validation Efficiency||97% (71/73)|
FUNCTION: This gene encodes a member of the endothelin family of peptides. The encoded preproprotein undergoes proteolytic processing to generate a peptide before secretion by the vascular endothelial cells. The mature peptide has various biological activities such as vasoconstriction, cell proliferation, stimulation of hormone release and modulation of central nervous activity. Mice lacking the encoded protein exhibit neonatal lethality accompanied with numerous craniofacial and cardiovascular defects due to disruption in cranial and cardiac neural crest cell patterning during early embryogenesis. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiovascular malformations, craniofacial abnormalities, and lethality due to respiratory failure at birth. Heterozygotes develop elevated arterial blood pressure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Edn1||
(F):5'- TGCTGGAATTTCTGCCAAGC -3'
(R):5'- ACCATGACGACTCTATTACTGGAC -3'
(F):5'- TGCCAAGCAGGAAAAGAACTC -3'
(R):5'- TTTCTCCCACTAGAAAGGACTGGG -3'