|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 17|
|Synonyms||membrane type-4 matrix metalloproteinase, MT4-MMP|
|Is this an essential gene?||Probably non essential (E-score: 0.076)|
|Stock #||R6341 (G1)|
|Chromosomal Location||129584169-129611099 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 129601955 bp|
|Amino Acid Change||Arginine to Tryptophan at position 335 (R335W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031390 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031390]|
|Predicted Effect||probably damaging
AA Change: R335W
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: R335W
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||Strain: 3604575; 3777020
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 exhibit dysfunctional vascular smooth muscle cells and altered extracellular matrix in the vessel wall leading to an increased susceptibility to angiotensin-II-induced thoracic aortic aneurysm. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal morphology, clinical chemistry, hematology and behavior. Mice homozygous for a reporter/null allele exhibit normal growth, fertility, and lifespan but show subtle renal developmental defects, hypodipsia, and elevated urine osmolarity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmp17||
(F):5'- ACTGACCTTGTTTGCCTGG -3'
(R):5'- CAGAAGCGATGCATTTGAGCC -3'
(F):5'- GTTCTGGCAGGAATAGCT -3'
(R):5'- ATGCATTTGAGCCGGCTGC -3'