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
hyperactivity Mmp16tm1b(EUCOMM)Wtsi HOM Early adult 2.00×10-13
hypoalgesia Mmp16tm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-06 *
decreased anxiety-related response Mmp16tm1b(EUCOMM)Wtsi HOM   Early adult 5.33×10-05
abnormal eye morphology Mmp16tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased mechanical nociceptive threshold Mmp16tm1b(EUCOMM)Wtsi HOM   Early adult 0.000972 *

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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
uterus 0.0%
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 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)

Associated Images

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

Echo

M-Mode Images

28 Images

Adult LacZ

LacZ Images Wholemount

17 Images

Embryo LacZ

LacZ images wholemount

4 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 the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short st... ORPHA:2019
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Disproportionate short-limb short stature, Short... OMIM:600121
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... OMIM:200700
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Microcephaly, Intrauterine growth retardation OMIM:614023
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Microcephaly, Short stature, Postaxial hand polydactyly, Short humerus, Aplasia/Hypop... ORPHA:2491
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... OMIM:614326
Omodysplasia 2
Dislocated radial head, Rhizomelic arm shortening, Limited elbow flexion, Short humerus, Short 1s... OMIM:164745
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Irregular femoral epiphysis, Postnatal growth retardation, Uppe... OMIM:618728
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Irregular capital femoral epiphysis, Short femoral n... OMIM:616716
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mental Retardation Syndrome, Mietens-Weber Type
Severe postnatal growth retardation, Dislocated radial head, Absent proximal radial epiphyses, Fo... OMIM:249600
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... ORPHA:2831
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Upper limb undergrowth, Hypoplasia of the radius, Short humerus, Hypertro... ORPHA:75508
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Rhizomelia, Micrognathia, Microcephaly, Disproporti... 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
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalan... OMIM:142900
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Ectrodac... ORPHA:2878
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Immunodeficiency 8
Hyperactivity OMIM:615401
Autosomal Dominant Omodysplasia
Short palm, Rhizomelia, Elbow dislocation, Micrognathia, Short humerus, Short 1st metacarpal ORPHA:93328
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Hypoplastic scapulae, Micrognathia... OMIM:602471
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Brachydactyly, Short ... OMIM:186500
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity OMIM:616657
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Microcephaly, Short stature OMIM:618160
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short femoral neck, Short ribs, Rhizomelia, Short stature, Short ... OMIM:610319
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ulnar bowing,... OMIM:211350
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Microcephaly, Intrauterine growth retardation OMIM:600546
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Congenital Disorder Of Glycosylation, Type Ig
Progressive microcephaly, Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tib... OMIM:607143
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Atelosteogenesis, Type I
Vertebral hypoplasia, 11 pairs of ribs, Micrognathia, Brachydactyly, Short metatarsal, Short hume... OMIM:108720
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Neonatal short-limb short stature, Hypoplasia of the radius, Pseudoarthrosis, Mesomelic short sta... OMIM:156230
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Short Stature, Dauber-Argente Type
Long toe, Decreased fibular diameter, Arachnodactyly, Microcephaly, Long fingers, Short stature, ... OMIM:619489
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Clinodactyly, Acromicria, Intrauterine growth retardation, Relative macrocephaly, Micrognathia, S... ORPHA:254525
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... 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
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Aplasia/Hypoplasia of the thumb, Sh... ORPHA:1350
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Proximal placement of thumb, Hand polydactyly, Absent radius, Short humerus OMIM:314390
Ulna And Fibula, Hypoplasia Of
Neonatal short-limb short stature, Disproportionate short-limb short stature, Hypoplasia of the u... OMIM:191400
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Sho... ORPHA:1836
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Lateral femoral bowing, Relative macrocephaly, Short stature, Short hum... OMIM:239000
Silver-Russell Syndrome Due To 11P15 Microduplication
Intrauterine growth retardation, Clinodactyly of the 5th finger, Severe intrauterine growth retar... ORPHA:231144
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Glycine Encephalopathy
Irritability, Impulsivity, Hyperactivity, Aggressive behavior OMIM:605899
Codas Syndrome
Delayed ossification of carpal bones, Absent epiphyses, Short metacarpal, Hypoplasia of the odont... OMIM:600373
Ulnar-Mammary Syndrome
Hypoplasia of the ulna, Aplasia of the 3rd finger, Absent radius, Elbow flexion contracture, Apla... OMIM:181450
Autosomal Recessive Omodysplasia
Rhizomelia, Elbow dislocation, Micrognathia, Micromelia, Abnormality of the radius, Abnormality o... ORPHA:93329
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Severe short sta... ORPHA:3344
Cono-Spondylar Dysplasia
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short 4th toe, Short humerus, ... ORPHA:420794
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Short thumb, Intrauterine growth retardation OMIM:609054
Duane-Radial Ray Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... OMIM:607323
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
11 pairs of ribs, Micrognathia, Micromelia, Disproportionate short stature, Microcephaly, Large h... OMIM:210710
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micromelia, Abnorma... ORPHA:1263
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Ulnar deviation of the wrist, Elbow dislocat... ORPHA:56305
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Long toe, Microcephaly, Long fingers, Postnatal growth retardation, Talipes equin... OMIM:613355
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Micrognathia, Limited elbow flexion, ... OMIM:258315
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Femoral-Facial Syndrome
Toe syndactyly, Missing ribs, Absent vertebra, Hypoplastic acetabulae, Micrognathia, Radioulnar s... OMIM:134780
Autosomal Recessive Kenny-Caffey Syndrome
Intrauterine growth retardation, Growth delay, Microcephaly, Stenosis of the medullary cavity of ... ORPHA:93324
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Metaphyseal dysplasia, Postnatal growth retardation, Macrocephal... OMIM:614732
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radioulnar dislocation, Fibular hypoplasia, Elbow dislocation, Ulnar deviated club ha... OMIM:164900
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Phocomelia, Short sternum, Short ribs, Short metacarpal, Hypopl... ORPHA:3404
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Microcephaly, Hypoplastic iliac wing,... OMIM:609945
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive behavior, Irritabil... ORPHA:3077
Melnick-Needles Syndrome
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Hypoplastic scapul... OMIM:309350
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Microcephaly, Short stature, Delayed puberty OMIM:618985
Baller-Gerold Syndrome
Carpal synostosis, Hypoplasia of the ulna, Patellar hypoplasia, Absent radius, Aplasia/Hypoplasia... OMIM:218600
Lennox-Gastaut Syndrome
Hyperactivity, Personality disorder, Aggressive behavior ORPHA:2382
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Single transverse palmar crease, Bro... OMIM:218330
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression OMIM:619467
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Emotional lability, Depression, Impulsivity, Attenti... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior OMIM:300983
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, 11 pairs of ribs, Clinodactyly of the 5th finger, Congenital hip ... OMIM:117650
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior OMIM:619470
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Brachydactyly, Trident pelvis, Short humerus, Short long bone, Disproportionate short-limb short ... OMIM:619479
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Disproportiona... OMIM:223800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Brachydactyly, Short metacarpal, Rhizomelic arm shortening, Short stature, Short humerus ORPHA:508542
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Impairment in personality functioning, E... ORPHA:96369
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microcephaly, Hypoplastic iliac wing, Disp... OMIM:210720
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:101039
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Tibial torsion, Hip ... OMIM:274000
Microphthalmia With Limb Anomalies
Toe syndactyly, Single transverse palmar crease, Hand oligodactyly, Postaxial foot polydactyly, F... OMIM:206920
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Ab... ORPHA:3130
Desbuquois Dysplasia 2
Genu varum, Severe short stature, Microcephaly, Metaphyseal widening, Broad thumb, Hip dislocatio... OMIM:615777
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bilateral talipes equinovarus, Absent thumb, Hypoplastic scapulae, Hypoplastic pelvis, Short clav... OMIM:618022
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Trigeminal Neuralgia
Depression, Allodynia, Episodic paroxysmal anxiety ORPHA:221091
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Growth delay, Polydactyly, Microcephaly, Short humerus, Short femur ORPHA:17
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Brachydactyly, Short palm, Rhizo-meso-acromelic limb shortening, Short metacarpal, Short phalanx ... OMIM:611717
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Occipital Horn Syndrome
Coxa valga, Limited elbow extension, Short humerus, Pelvic bone exostoses, Short clavicles, Genu ... OMIM:304150
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Juvenile Huntington Disease
Depression, Hyperactivity, Irritability ORPHA:248111
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Wiedemann-Rautenstrauch Syndrome
Intrauterine growth retardation, Long toe, Large hands, Micrognathia, Long fingers, Short stature... OMIM:264090
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Bipolar affective disorder,... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Inappropriate laughter ORPHA:411515
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Broad hallux,... OMIM:304120
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior ORPHA:457260
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
Thin long bone diaphyses, 2-3 toe syndactyly, Long toe, Hypoplastic vertebral bodies, Intrauterin... ORPHA:3455
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Irritability, Depression, A... ORPHA:449291
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:500180
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
X-Linked Adrenoleukodystrophy
Disinhibition, Hyperactivity, Aggressive behavior, Inappropriate sexual behavior, Attention defic... ORPHA:43
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Aggressive behavior ORPHA:391307
Occipital Horn Syndrome
Brachydactyly, Coxa valga, Short palm, Absent tibia, Aplastic clavicle, Abnormality of fibula mor... ORPHA:198
Al-Gazali Syndrome
Bilateral talipes equinovarus, Micrognathia, Broad distal phalanx of finger, Proximal radio-ulnar... OMIM:609465
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Aggressive behavior, Inappropriate laughter, Self-mutilation OMIM:103050
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior OMIM:610042
Spondylocarpotarsal Synostosis Syndrome
Brachydactyly, Carpal synostosis, Abnormality of pelvic girdle bone morphology, Short metacarpal,... OMIM:272460
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Hyperactivity, Aggressive behavior, Self-mutilation, Skin-picking ORPHA:163681
47,Xyy Syndrome
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder ORPHA:8
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Impulsivity OMIM:610217
Histidinemia
Hyperactivity ORPHA:2157
Benign Schwannoma
Allodynia ORPHA:252164
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Argininemia
Irritability, Hyperactivity OMIM:207800
Choreoacanthocytosis
Socially inappropriate behavior, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive beha... ORPHA:2388

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
Mmp16tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mmp16tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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