|Institutional Source||Beutler Lab|
|Gene Name||angiopoietin 1|
|Synonyms||Angiopoietin-1, 1110046O21Rik, Ang-1, ang1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5526 (G1)|
|Chromosomal Location||42424723-42676977 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 42512341 bp|
|Amino Acid Change||Leucine to Proline at position 173 (L173P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022921 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022921]|
|Predicted Effect||probably damaging
AA Change: L173P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L173P
|Coding Region Coverage||
FUNCTION: This gene encodes a secreted glycoprotein that belongs to the angiopoietin family of vascular growth factors. The encoded protein is a ligand in the vascular tyrosine kinase signaling pathway and regulates the formation and stabilization of blood vessels. This protein also functions in striated muscles by promoting proliferation, migration and differentiation of skeletal myoblasts and plays an essential role in the vascular response to tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality by E12.5 and deficits in vascular development such as a reduction in vascular branching. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Angpt1||
(F):5'- GAACACAGGCCCAATGGTTG -3'
(R):5'- CATCATATGCCTAAGTCATTCGG -3'
(F):5'- CCAATGGTTGACACATTGGC -3'
(R):5'- CTCAAGGATTTTTTGCTACTTG -3'