Mmp13 MGI Mouse Gene Detail - MGI:1340026 - matrix metallopeptidase 13

Symbol

Mmp13
Name

matrix metallopeptidase 13
Synonyms

Clg, collagenase-1, Collagenase-3, interstitial collagenase, Mmp1, MMP-13

Feature Type

protein coding gene
IDs

MGI:1340026
NCBI Gene: 17386
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr9:7272514-7283331 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 2.46 cM, cytoband A1-A2
Mapping Data

2 experiments

SNPs within 2kb

396 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1340026	protein coding gene	Chr9:7272514-7283333 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034319	protein coding gene	Chr9:4129448-4140267 (+)
A/J	MGP_AJ_G0034296	protein coding gene	Chr9:4215918-4226737 (+)
AKR/J	MGP_AKRJ_G0034226	protein coding gene	Chr9:4089716-4100539 (+)
BALB/cJ	MGP_BALBcJ_G0034290	protein coding gene	Chr9:3975291-3986110 (+)
C3H/HeJ	MGP_C3HHeJ_G0034002	protein coding gene	Chr9:4306918-4317737 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034812	protein coding gene	Chr9:4286008-4296827 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031750	protein coding gene	Chr9:3538535-3549643 (+)
CAST/EiJ	MGP_CASTEiJ_G0033329	protein coding gene	Chr9:4307283-4318174 (+)
CBA/J	MGP_CBAJ_G0033974	protein coding gene	Chr9:4390594-4401413 (+)
DBA/2J	MGP_DBA2J_G0034131	protein coding gene	Chr9:4102637-4113456 (+)
FVB/NJ	MGP_FVBNJ_G0034076	protein coding gene	Chr9:3899320-3910139 (+)
LP/J	MGP_LPJ_G0034218	protein coding gene	Chr9:4183734-4194557 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034120	protein coding gene	Chr9:5108640-5119459 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034831	protein coding gene	Chr9:4086587-4097406 (+)
PWK/PhJ	MGP_PWKPhJ_G0033033	protein coding gene	Chr9:4261827-4272858 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032870	protein coding gene	Chr9:4359809-4370728 (+)
WSB/EiJ	MGP_WSBEiJ_G0033445	protein coding gene	Chr9:4095517-4106340 (+)

Human Ortholog

MMP13, matrix metallopeptidase 13

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MMP13, matrix metallopeptidase 13
Synonyms

CLG3, MANDP1, MDST, MMP-13
Links

HGNC:7159

NCBI Gene ID: 4322

neXtProt AC: NX_P45452

UniProt: P45452
Chr Location

11q22.2; chr11:102942995-102955732 (-) GRCh38

MGI Vertebrate Homology

Mmp13 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: MMP13
Protein SuperFamily

Peptidase_M10A_matrix
Gene Tree

Mmp13

Diseases

6 with human MMP13 associations

				Human Disease	Mouse Models
				abdominal aortic aneurysm IDs abdominal aortic aneurysm DOID:7693 EFO:0004214 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 UMLS_CUI:C0162871
				anodontia IDs anodontia DOID:13714 ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 NCI:C172328 OMIM:206780 UMLS_CUI:C0399352
				arteriosclerosis IDs arteriosclerosis DOID:2349 ICD10CM:I70 MESH:D001161 NCI:C34398 UMLS_CUI:C0003850
				osteoarthritis IDs osteoarthritis DOID:8398 ICD9CM:715.3 UMLS_CUI:C0157946
				ovarian carcinoma IDs ovarian carcinoma DOID:4001 EFO:0001075 UMLS_CUI:C0677886
				spondyloepimetaphyseal dysplasia, Missouri type IDs spondyloepimetaphyseal dysplasia, Missouri type DOID:0080030 MESH:C566574 OMIM:602111 ORDO:93356

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

23 phenotypes from 5 alleles in 6 genetic backgrounds
12 phenotypes from multigenic genotypes
2 images
49 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

6
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone.

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All GO Annotations

39
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1033
Tissues

133
cDNA Data

29
Literature Summary

206

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN mmp13a, mmp13b

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All Sequences

43
RefSeq

2
UniProt

5
CCDS

CCDS22803.1

Ensembl

ENSMUSG00000050578 (Evidence)
NCBI Gene

17386

			Length	Strain/Species	Flank
genomic	ENSMUSG00000050578	Ensembl Gene Model \| MGI Sequence Detail	10818	C57BL/6J	± kb
transcript	ENSMUST00000015394	Ensembl \| MGI Sequence Detail	2673	Not Applicable
polypeptide	ENSMUSP00000015394	Ensembl \| MGI Sequence Detail	472	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000010473 collagenase 3

(term hierarchy)
PDB

1CXV
EC

3.4.24.-, 3.4.24.7
InterPro Domains

IPR018486 Hemopexin, conserved site

IPR000585 Hemopexin-like domain

IPR036375 Hemopexin-like domain superfamily

IPR018487 Hemopexin-like repeats

IPR024079 Metallopeptidase, catalytic domain superfamily

IPR021190 Peptidase M10A

IPR033739 Peptidase M10A, catalytic domain

IPR021158 Peptidase M10A, cysteine switch, zinc binding site

IPR001818 Peptidase M10, metallopeptidase

IPR006026 Peptidase, metallopeptidase

IPR002477 Peptidoglycan binding-like

IPR036365 PGBD-like superfamily
GlyGen

P33435 3 sites

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All nucleic 67

Genomic 1

cDNA 30

Primer pair 20

Other 16

Microarray probesets 3

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MGD-MRK-12276, MGD-MRK-2012, MGI:97006

Summaries

All 353

Developmental Gene Expression 206

Gene Ontology 11

Phenotypes 49
Earliest

J:2506 Henriet P, et al., Cloning and sequencing of mouse collagenase cDNA. Divergence of mouse and rat collagenases from the other mammalian collagenases. FEBS Lett. 1992 Sep 28;310(2):175-8
Latest

J:355649 Li Q, et al., Metabolic rewiring during bone development underlies tRNA m7G-associated primordial dwarfism. J Clin Invest. 2024 Sep 10;134(20)

TSS for Mmp13:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr83673	Chr9:7272520-7272537 (+)	15 bp
Tssr83674	Chr9:7277910-7277938 (+)	5,410 bp
Tssr83675	Chr9:7277962-7277977 (+)	5,456 bp
Tssr83676	Chr9:7280245-7280256 (+)	7,737 bp
Tssr83677	Chr9:7280853-7280875 (+)	8,350 bp
Tssr83678	Chr9:7282201-7282216 (+)	9,695 bp
Tssr83679	Chr9:7282315-7282336 (+)	9,812 bp
Tssr83680	Chr9:7282379-7282399 (+)	9,875 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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