banner
Genes Phenotypes Help, News, Blog

Gene: Timp4 MGI:109125

Log in to follow

Gene Summary

Name:
tissue inhibitor of metalloproteinase 4
Synonyms:
TIMP-4

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
abnormal skin morphology Timp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Timp4em1(IMPC)Mbp HOM Early adult 0.00
small heart Timp4em1(IMPC)Mbp HOM Early adult 0.00
small spleen Timp4em1(IMPC)Mbp HOM Early adult 0.00
absent optic nerve Timp4em1(IMPC)Mbp HOM Early adult 0.00
increased startle reflex Timp4em1(IMPC)Mbp HOM   Early adult 5.61×10-05
increased freezing behavior Timp4em1(IMPC)Mbp HOM Early adult 2.07×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Timp4 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 Timp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Angina pectoris ORPHA:79292
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris ORPHA:140905
Optic Atrophy 11
Hyperactivity, Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Athetosis, S... OMIM:617302
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasi... ORPHA:137634
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cognitive Impairment With Or Without Cerebellar Ataxia
Severe temper tantrums, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:614306
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Hepatic Lipase Deficiency
Angina pectoris OMIM:614025
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ... ORPHA:89844
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Com... ORPHA:401777
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Optic nerve hypoplasia, Tics, Low frustration tolerance, Inappropriate laughter, O... ORPHA:363686
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... ORPHA:309246
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... OMIM:177850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ... OMIM:609541
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Optic nerve hypoplasia, Pulmoni... OMIM:615280
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Bone marrow hypocellularity, Neutropenia, Atri... OMIM:609053
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Optic nerve hypoplasia, Prolonged neonatal jaundice OMIM:618828
Squalene Synthase Deficiency
Irritability, Bicuspid aortic valve, Optic nerve hypoplasia OMIM:618156
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Abnormal cardiomyocyte morphology, Cardiomyopathy, L... ORPHA:565612
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Optic atrophy, Cardiomyopathy, Microphthalmia ORPHA:370959
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
White-Sutton Syndrome
Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Abnormal repetitive mannerisms, Self-... OMIM:616364
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response, Mitral valve pro... ORPHA:309155
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri... OMIM:616881
Apolipoprotein A-I Deficiency
Angina pectoris ORPHA:425
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia OMIM:615879
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Intention tremor OMIM:618381
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia OMIM:615583
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Leukopenia, Pulmonic stenosis, D... OMIM:301056
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia ORPHA:85284
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Multi... OMIM:601186
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
D-Glyceric Aciduria
Tongue thrusting, Optic nerve hypoplasia, Opisthotonus OMIM:220120
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Increased mean corpusc... ORPHA:261250
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased reti... OMIM:606519
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia, Dysphagia OMIM:615033
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Splenomegaly, Cardiomyopathy, Hyp... ORPHA:93473
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Cardiomegaly, Hepatosplenome... OMIM:268800
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Myocardi... OMIM:253800
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:617914
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Optic nerve hypoplasia, Abnormal autonomic nervous system physiology, Dystonia, Emot... ORPHA:300570
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia OMIM:602361
Rhizomelic Chondrodysplasia Punctata, Type 2
Tetralogy of Fallot, Optic nerve hypoplasia OMIM:222765
Fg Syndrome Type 1
Optic nerve hypoplasia, Mitral valve prolapse, Attention deficit hyperactivity disorder, Compulsi... ORPHA:93932
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Polydipsia, Optic nerve hypoplasia ORPHA:3157
Stiff-Person Syndrome
Depression, Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Truncus arteriosus, Ventricular sept... ORPHA:508498
Tay-Sachs Disease
Exaggerated startle response, Tremor, Optic atrophy, Dysphagia, Hepatosplenomegaly, Depression, D... ORPHA:845
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:612513
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
2P15P16.1 Microdeletion Syndrome
Optic nerve hypoplasia, Facial palsy, Optic atrophy, Attention deficit hyperactivity disorder, Dy... ORPHA:261349
Dysbetalipoproteinemia
Hepatomegaly, Angina pectoris ORPHA:412
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder ORPHA:357001
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Elevated diastolic blood press... ORPHA:90041
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Dysphagia, Intention tremor OMIM:620029
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Exaggerated startle response, Patent foramen ovale, Tremor OMIM:620327
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Cerebrotendinous Xanthomatosis
Angina pectoris, Myocardial infarction OMIM:213700
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic ... OMIM:609069
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplastic left heart,... OMIM:301043
Stromme Syndrome
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia, Accessory spleen OMIM:243605
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proport... ORPHA:221139
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... OMIM:106210
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Aortic regurgitation, Mitral valve calcification, Mitral stenosis, Angin... ORPHA:740
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia OMIM:300749
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Ventricular septal defect, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling... OMIM:620330
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Telangiectasia ORPHA:109
Hydranencephaly
Dilatation of the ventricular cavity, Chorioretinal atrophy, Optic nerve hypoplasia, Opisthotonus ORPHA:2177
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617301
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Optic nerve hypoplasia, Pulmonic stenosis, Atrial septal defect, Paten... OMIM:617506
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Abnormal heart morpholo... ORPHA:453504
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Dystonia, Cherry red spot of th... ORPHA:79255
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Abnormal heart morpholo... ORPHA:352665
8Q24.3 Microdeletion Syndrome
Hyperactivity, Ventricular septal defect, Optic nerve hypoplasia, Complete atrioventricular canal... ORPHA:508488
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Mi... OMIM:236670
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Self-injurious behavior, Abn... ORPHA:468631
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Optic nerve hypoplasia, Optic disc coloboma, Pulmonic stenosis, ... ORPHA:536471
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Marshall-Smith Syndrome
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Dysplastic aortic valve OMIM:602535
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Optic nerve hypoplasia ORPHA:45358
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary window OMIM:620025
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617527
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Optic disc coloboma, Chorioretin... ORPHA:141099
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Hepatic steatosis OMIM:619321
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia ORPHA:457284
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353281
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect... ORPHA:438213
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Optic nerve hypoplasia, Optic atrophy, Abnormal heart morphology, Dysphagia, ... ORPHA:500150
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:495875
Baller-Gerold Syndrome
Optic atrophy, Optic nerve hypoplasia, Anomalous splenoportal venous system, Abnormal heart morph... OMIM:218600
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon ORPHA:59315
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Prolonged neonatal jaundice ORPHA:226307
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353277
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Aggressive behavior, Limb tremor, Self-injurious behavior, Attention defic... OMIM:619841
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Attention deficit hyperactivity disorder... OMIM:619522
Pmm2-Cdg
Pericarditis, Angina pectoris, Pericardial effusion, Intracranial hemorrhage, Hypertrophic cardio... ORPHA:79318

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 Timp4

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 Timp4.

No publications found that use IMPC mice or data for Timp4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Timp4tm197186(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Timp4em1(IMPC)Mbp Exon Deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter