|Institutional Source||Beutler Lab|
|Gene Name||amine oxidase, copper containing 3|
|Synonyms||semicarbazide-sensitive amine oxidase, SSAO, VAP1|
|Is this an essential gene?||Probably non essential (E-score: 0.115)|
|Stock #||R8444 (G1)|
|Chromosomal Location||101330605-101341938 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 101341747 bp|
|Amino Acid Change||Arginine to Serine at position 466 (R466S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000017316 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000017316] [ENSMUST00000103105]|
AA Change: R466S
AA Change: R466S
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null mice display decreased lymphocyte migration and homing in response to inflammation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aoc3||
(F):5'- GAGCTTTAGGATGGAGGCC -3'
(R):5'- TCTGTGAAACTCTTTACTGCAAG -3'
(F):5'- CCATGGAGGGATACTACTTACTGAC -3'
(R):5'- GTCTGGAACTGAACTTGG -3'