Gene Summary

Name:
matrix metallopeptidase 16
Synonyms:
Membrane type 3-MMP,  MT3-MMP

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hypoalgesia Mmp16tm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-06 *
decreased anxiety-related response Mmp16tm1b(EUCOMM)Wtsi HOM   Early adult 5.42×10-05
abnormal eye morphology Mmp16tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased mechanical nociceptive threshold Mmp16tm1b(EUCOMM)Wtsi HOM   Early adult 0.000972 *
hyperactivity Mmp16tm1b(EUCOMM)Wtsi HOM Early adult 2.23×10-13

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 50% (1 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 100% (1 of 1)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Wholemount

17 Images

Embryo LacZ

LacZ images wholemount

4 Images

Echo

M-Mode Images

28 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Mmp16 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mmp16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome Xp11.22 Duplication Syndrome
Macrocephaly OMIM:300705
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short stature, Short hu... ORPHA:2019
Rhizomelic Chondrodysplasia Punctata, Type 3
Disproportionate short-limb short stature, Short femur, Short humerus, Rhizomelia, Epiphyseal sti... OMIM:600121
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... OMIM:619598
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Sh... OMIM:200700
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Split hand, Short stature, Microcephaly, Short humerus, Micromeli... ORPHA:2491
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Microcephaly, Intrauterine growth retardation OMIM:614023
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... OMIM:614326
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e... OMIM:164745
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Intrauterine growth retardation, Flat capital femoral epiphysi... OMIM:601560
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Swan neck-like def... OMIM:616716
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Deviation of finger, Genu valgum... ORPHA:2831
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Severe postnatal growth retardation, Elbow flexion c... OMIM:249600
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... ORPHA:75508
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short stature, Absent radius, Short hu... OMIM:171480
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Microcephaly, Short humerus, Rhizomelia, Disproportionate short stature, Stippled c... OMIM:222765
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Macrocephaly, Abnormal morphology of ulna, Abnormality of the hum... ORPHA:1275
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... ORPHA:2878
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Immunodeficiency 8
Hyperactivity OMIM:615401
Autosomal Dominant Omodysplasia
Micrognathia, Short 1st metacarpal, Short humerus, Rhizomelia, Short palm, Elbow dislocation ORPHA:93328
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Microcephaly, Short stature OMIM:618160
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Talipes equinovarus, Short stature, Micrognathia, Short humerus, Delayed ... OMIM:602471
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... OMIM:186500
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short stature, Short humerus, Short femoral neck, Rhizomelia, Promin... OMIM:610319
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Microcephaly, Intrauterine growth retardation OMIM:600546
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Acromesomelic Dysplasia 2C
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... OMIM:201250
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... OMIM:607143
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Relative macrocephaly, Small hand, Micrognathia, Acromicria, Short foot, Clinodactyly, Postnatal ... ORPHA:254525
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Microcephaly, Short stature OMIM:608278
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Abnormality o... ORPHA:1350
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Short stature, Arachnodactyly, Microcephaly, Long fingers, Postnatal ... OMIM:619489
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius OMIM:314390
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... ORPHA:959
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Disproportionate short-limb short stature, Neonatal short-limb short stat... OMIM:191400
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Relative macrocephaly, Sh... ORPHA:231144
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... ORPHA:1836
Paget Disease Of Bone 5, Juvenile-Onset
Macrocephaly, Relative macrocephaly, Short stature, Short humerus, Lateral femoral bowing, Bowing... OMIM:239000
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Severe short stature, Abnormal morphology of ulna... ORPHA:3344
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Short stature, Hypoplastic distal humeri, Micrognathia, Micromel... ORPHA:93329
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Codas Syndrome
Metaphyseal dysplasia, Delayed ossification of carpal bones, Short stature, Congenital hip disloc... OMIM:600373
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Aplasia of the ulna, Short clavicles, Aplasia of the 3rd finger, H... OMIM:181450
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Short humerus, Brachyda... ORPHA:420794
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Severe short stature, Short tubu... OMIM:184253
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Pectoralis hypoplasia, Small thenar eminence, Short humer... OMIM:607323
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Short thumb OMIM:609054
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Micromelia, 11 pairs of ribs, Single transverse palmar crease, Intrauterine growt... OMIM:210710
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ly... OMIM:601376
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Atelosteogenesis Type Iii
Talipes equinovarus, Absent humerus, Micrognathia, Distal tapering femur, Absent radius, Abnormal... ORPHA:56305
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Talipes equinovarus, Slender finger, Microcephaly, Long fingers, Postnatal growth retardation, Lo... OMIM:613355
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Saul-Wilson Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... OMIM:618150
Omodysplasia 1
Disproportionate short-limb short stature, Increased fibular diameter, Micrognathia, Short tibia,... OMIM:258315
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the... ORPHA:93324
Femoral-Facial Syndrome
Short fifth metatarsal, Hypoplastic acetabulae, Talipes equinovarus, Short fourth metatarsal, Sho... OMIM:134780
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Severe intrauterine growth retardation, Short sternum, Talipes eq... ORPHA:3404
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... OMIM:619827
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... OMIM:309350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior ORPHA:2382
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Baller-Gerold Syndrome
Carpal synostosis, Short stature, Hypoplasia of the radius, Micrognathia, Carpal bone aplasia, Sh... OMIM:218600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Microcephaly, Delayed puberty, Short stature OMIM:618985
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Landau-Kleffner Syndrome
Impulsivity, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:98818
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Short long bone, Short humerus, Brachydactyly, Bowed h... OMIM:619479
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Conge... OMIM:117650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Short humerus, Brachydactyly, Rhizomelic arm shortening, Short metacarpal ORPHA:508542
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Short ribs, Short humerus, Brachydactyly, Flattened ep... OMIM:218330
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, M... OMIM:619135
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Di... OMIM:223800
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Macrocephaly, Postnatal growth retardation, Intraute... OMIM:614732
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Short forearm, Ca... OMIM:274000
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Broad hallux, Genu valgum, Rhizomelia, Short long bone, Metaphyseal irregularity,... OMIM:618019
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Intrauterine growth... OMIM:210720
Desbuquois Dysplasia 2
Cutaneous syndactyly, Monkey wrench femoral neck, Single transverse palmar crease, Intrauterine g... OMIM:615777
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Microphthalmia With Limb Anomalies
Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, Hand oligodactyly... OMIM:206920
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Hypoplastic pelvis, Hypoplastic sca... OMIM:618022
Trigeminal Neuralgia
Depression, Episodic paroxysmal anxiety, Allodynia ORPHA:221091
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Microcephaly, Short humerus, Polydactyly, Growth delay ORPHA:17
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Disproportionate short-limb short stature, Rhizo-meso... OMIM:611717
Occipital Horn Syndrome
Short clavicles, Coxa valga, Short humerus, Limited elbow extension, Genu valgum, Pelvic bone exo... OMIM:304150
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Paroxysmal bursts of laughter OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Inappropriate laughter ORPHA:411515
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Wiedemann-Rautenstrauch Syndrome
Intrauterine growth retardation, Macrocephaly, Talipes equinovarus, Short femur, Short stature, H... OMIM:264090
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Microcephaly, Intrauterine growth retardation OMIM:615190
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Microcephaly, Short thumb OMIM:610832
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Intrauterine growth retardation, Hypoplastic vertebral bo... ORPHA:3455
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Al-Gazali Syndrome
Bilateral talipes equinovarus, Proximal radio-ulnar synostosis, Micrognathia, Broad distal phalan... OMIM:609465
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Attention deficit hyperactivity disorder, Disinhibi... ORPHA:43
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... ORPHA:198
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Cox... OMIM:272460
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Benign Schwannoma
Allodynia ORPHA:252164
Histidinemia
Hyperactivity ORPHA:2157
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mmp16

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mmp16.

No publications found that use IMPC mice or data for Mmp16.

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MGI Allele Allele Type Produced
Mmp16tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mmp16tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mmp16tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mmp16tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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