|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 12|
|Synonyms||Mmel, macrophage elastase, MMP12|
|Is this an essential gene?||Probably non essential (E-score: 0.126)|
|Stock #||R7057 (G1)|
|Chromosomal Location||7344381-7369499 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 7369173 bp|
|Amino Acid Change||Valine to Isoleucine at position 270 (V270I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047888] [ENSMUST00000065079]|
|Predicted Effect||probably benign
AA Change: V270I
PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V270I
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein have a diminished capacity to degrade extracellular matrix components, do not develop emphysema in response to long-term exposure to cigarette smoke, and exhibit impaired clearance and increased mortality upon bacterial infection. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to cigarette smoke, decreased littler size, abnormal myelination, abnormal macrophage physiology, and decreased oligodedrocytes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmp12||
(F):5'- ATGGCCCAGGATAGCAAGAC -3'
(R):5'- AGGACACTGTTCTAGCTTGTG -3'
(F):5'- GCAAGACAGGCTTATTGGATTCCC -3'
(R):5'- CAAGGAGGGTCATCTGTGGC -3'