Gene: Etv4 MGI:99423

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ets variant 4
Synonyms:
Pea-3,  Pea3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Etv4 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 Etv4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Paresthesia, Orthostatic hypotension, Gait disturbance, Abnormal upper motor ... OMIM:263570
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal lower motor neuron morphology, Progressive cer... ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait OMIM:611637
Juvenile Primary Lateral Sclerosis
Abnormality of the bladder, Gait imbalance, Spastic gait, Abnormal upper motor neuron morphology ORPHA:247604
Isochromosomy Yp
Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degene... OMIM:602433
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Orthostatic Hypotension 1
Retrograde ejaculation OMIM:223360
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Hyperechogeni... OMIM:617914
Isochromosomy Yq
Decreased testicular size, Male infertility, Azoospermia ORPHA:98798
Perineural Cyst
Infertility, Female sexual dysfunction, Impotence, Retrograde ejaculation, Dyspareunia, Male sexu... ORPHA:65250
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Difficulty walking, Paucity ... OMIM:611890
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Difficulty walking, Waddling gait, Abnormal lower motor neuron morphology OMIM:611067
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper m... OMIM:205100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spastic gait OMIM:606353
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Amyotrophic lateral sclerosis, Cranial nerve compression, ... ORPHA:52430
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Abnormal upper motor neuron morphology, Dysmetria, Optic atrophy OMIM:607694
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Renal Coloboma Syndrome
Optic disc coloboma, Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Optic nerve... ORPHA:1475
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Gait ataxia, Ataxia OMIM:215470
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Renal agenesis, Hydronephrosis, Inability to walk OMIM:618494
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Aganglionic megacolon, Renal dysplasia, Vesicoureter... ORPHA:85284
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Syringomyelia OMIM:613735
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux, Abnormal conus terminalis morphology ORPHA:464288
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Familial Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Abnormal hair morphology, Oligospermia ORPHA:3000
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Spastic gait, Atrophy of th... ORPHA:35689
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Gait disturbance, Abnormal upper motor neuron morphology OMIM:221770
Cach Syndrome
Truncal ataxia, Renal hypoplasia, Limb ataxia, Dysmetria, Optic atrophy ORPHA:135
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Renal hypoplasia, Aminoaciduria, Hydronephrosis, Optic atrophy OMIM:617913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Waddling gait, Abnormal lower motor neuron morphology, Difficulty walking ORPHA:2590
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation ORPHA:230
Mungan Syndrome
Renal hypoplasia, Abnormality of the autonomic nervous system, Vesicoureteral reflux OMIM:611376
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence, Abnormal lower motor neuron morphology OMIM:607225
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis OMIM:236500
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Progressive cerebellar ataxia, Abnormal lower motor neuro... ORPHA:275872
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Hypospadias, Renal agenesis, Micropenis ORPHA:171839
Igg4-Related Retroperitoneal Fibrosis
Retrograde ejaculation, Hydrocele testis, Impotence ORPHA:49041
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux, Spinal dysraphism, Tethered cord OMIM:617660
Oligomeganephronia
Decreased numbers of nephrons, Optic disc coloboma, Proteinuria, Unilateral renal agenesis, Abnor... ORPHA:2260
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Gait ataxia, Truncal ataxia OMIM:616817
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Gait disturbance, Urinary incontinence, Urinary urgency, Abnormal u... OMIM:601162
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney, Syringomyelia ORPHA:94063
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Optic nerve... OMIM:609053
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Renal dysplasia, Urethral obstruction, Hypertrophy of the urinary bladder OMIM:601389
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ataxia, Amyotrophic lateral sclerosis OMIM:615911
Machado-Joseph Disease Type 3
Neurogenic bladder, Dystonia, Spinocerebellar tract degeneration, Progressive gait ataxia, Abnorm... ORPHA:276244
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Renal hypoplasia, Gait disturbance, Unilateral renal agenesis, Ataxia, Ectopi... OMIM:616541
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Aganglionic m... OMIM:607323
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis OMIM:613954
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Burn-Mckeown Syndrome
Renal hypoplasia OMIM:608572
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Gait disturbance, Abnormal lower motor neuron morphology, Ataxia, Oromandibular dystoni... OMIM:614298
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Dystonia, Facial palsy, Amyotrophic lateral sclerosis OMIM:167320
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal insufficiency, Renal dysplasia, Hypoplasia of penis ORPHA:85321
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Emanuel Syndrome
Renal hypoplasia, Renal agenesis, Micropenis OMIM:609029
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Azoospermia, Streak ovary, Unilateral cryptorchidism, Female i... ORPHA:261529
Exstrophy-Epispadias Complex
Bladder duplication, Spina bifida, Horseshoe kidney, Renal hypoplasia, Penoscrotal transposition,... ORPHA:322
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis ORPHA:96170
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Difficulty walking, Unilateral renal agenesis,... ORPHA:90324
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Penile Agenesis
Unilateral renal hypoplasia, Hydroureter, Bilateral renal agenesis, Cystic renal dysplasia, Ureth... ORPHA:49
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Marden-Walker Syndrome
Renal hypoplasia, Hypospadias, Micropenis OMIM:248700
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Hydronephrosis OMIM:618454
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Matthew-Wood Syndrome
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Inability to walk, Renal hypoplasia, Progressive g... ORPHA:191
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Renal agenesis, Horseshoe kidney, Renal hypoplasia, Abnormality of the optic disc, ... ORPHA:508498
Androgen Insensitivity Syndrome
Cryptorchidism, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Sparse pubic hair,... ORPHA:754
Vocal Cord And Pharyngeal Distal Myopathy
Difficulty walking, Amyotrophic lateral sclerosis, Unsteady gait, Distal sensory impairment, Decr... ORPHA:600
Vacterl Association With Hydrocephalus
Renal hypoplasia OMIM:276950
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis OMIM:614083
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Chorea, Toe walking, Amyotrophic... ORPHA:300605
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Reduced renal cor... OMIM:122470
Duplication Of Urethra
Dysuria, Unilateral renal hypoplasia, Bladder duplication, Penile hypospadias, Rectourethral fist... ORPHA:237
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias, Ataxia ORPHA:314679
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Hydronephrosis, Pelvic kidney OMIM:601186
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Renal dysplasia, Renal cyst, Ectopic kidney, Hydronephrosis, Dista... OMIM:146510
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Vesicoureteral reflux, Microphallus, Pelvic kidney OMIM:603467
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Micropenis OMIM:264480
Van Maldergem Syndrome 2
Renal hypoplasia, Hypospadias, Micropenis OMIM:615546
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary ame... ORPHA:79239
Smith-Lemli-Opitz Syndrome
Renal hypoplasia, Aganglionic megacolon, Unilateral renal agenesis, Ureteropelvic junction obstru... OMIM:270400
22Q11.2 Deletion Syndrome
Spina bifida, Multiple renal cysts, Renal hypoplasia, Aganglionic megacolon, Meningocele, Vesicou... ORPHA:567
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Hyperintensity of MRI T2 signal of the spina... ORPHA:79139
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:618975
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Stromme Syndrome
Bilateral renal hypoplasia, Optic nerve hypoplasia, Hydronephrosis OMIM:243605
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Renal insufficiency, Renal agenesis, Pyelonephritis OMIM:181270
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Poland Syndrome
Renal hypoplasia, Duplicated collecting system, Vesicoureteral reflux, Spina bifida occulta, Hypo... ORPHA:2911
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Optic nerve aplasia ORPHA:264200
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Duplicated collecting system, Renal tubular... OMIM:118450
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Absent pubic hair, Absent axillary hair, Bilatera... ORPHA:99429
Ulnar-Mammary Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:3138
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Williams Syndrome
Recurrent urinary tract infections, Abnormality of the bladder, Hypercalciuria, Vesicoureteral re... ORPHA:904
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Renal Dysplasia-Limb Defects Syndrome
Renal hypoplasia, Renal dysplasia OMIM:266910
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Okamoto Syndrome
Unilateral renal hypoplasia, Urinary incontinence, Ureteropelvic junction obstruction, Hydronephr... ORPHA:2729
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Micropenis, Optic atrophy, Optic nerve hypoplasia OMIM:619321
Coffin-Siris Syndrome 1
Gait ataxia, Hydroureter, Renal hypoplasia, Hydronephrosis, Ectopic kidney, Spina bifida occulta,... OMIM:135900
Fraser Syndrome 1
Renal hypoplasia, Hypospadias, Renal hypoplasia/aplasia, Myelomeningocele, Micropenis OMIM:219000
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Kinsship Syndrome
Renal hypoplasia, Horseshoe kidney OMIM:619297
Fraser Syndrome
Urethral atresia, Renal hypoplasia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadia... ORPHA:2052
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Azoospermia, Aplasia of the ovary, Abnormality of... ORPHA:90797
Williams-Beuren Syndrome
Abnormal renal morphology, Renal hypoplasia, Gait imbalance, Recurrent urinary tract infections, ... OMIM:194050
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Renal hypoplasia, Vesicoureteral reflux, Hyperactivity, Hypospadias, Optic atrophy, Micropenis OMIM:309580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Elevated circulating luteinizing hormone level, Increased circul... ORPHA:90793
Townes-Brocks Syndrome 1
Renal hypoplasia, Urethral valve, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral r... OMIM:107480
Aromatase Deficiency
Generalized hirsutism, Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female... ORPHA:91
Townes-Brocks Syndrome
Multiple renal cysts, Renal hypoplasia, Urethral valve, Vesicoureteral reflux, Ectopic kidney, Hy... ORPHA:857
Charge Syndrome
Horseshoe kidney, Renal hypoplasia, Facial palsy, Hydronephrosis, Renal agenesis, Micropenis OMIM:214800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Micropenis, Renal cyst OMIM:210710
Diamond-Blackfan Anemia 1
Renal hypoplasia OMIM:105650
Renpenning Syndrome 1
Renal hypoplasia, Hypospadias, Phimosis OMIM:309500
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis ORPHA:2363
Ane Syndrome
Motor neuron atrophy ORPHA:157954
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Decreased fertility in females, Elevated circulating luteinizing hormone level, A... ORPHA:251510
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral reflux, Optic nerve hypopla... ORPHA:508488
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis, Hypoplasia of penis ORPHA:93271
Peters-Plus Syndrome
Renal hypoplasia, Hypospadias, Ureteral duplication, Hydronephrosis OMIM:261540
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Ulbright-Hodes Syndrome
Renal hypoplasia, Abnormal penis morphology, Polycystic kidney dysplasia ORPHA:3404
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Microphthalmia, Syndromic 6
Renal hypoplasia, Hypospadias, Micropenis OMIM:607932
Microphthalmia, Syndromic 1
Hydroureter, Renal hypoplasia, Aganglionic megacolon, Hypospadias, Renal hypoplasia/aplasia OMIM:309800
Bloom Syndrome
Azoospermia, Oligospermia, Patchy alopecia, Male infertility, Premature ovarian insufficiency, Sp... ORPHA:125
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Low posterior hairline, Ch... ORPHA:1772
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of hair, Male hypogonadism OMIM:219800
Noonan Syndrome 1
Cryptorchidism, Hypogonadism, Male infertility, Low posterior hairline OMIM:163950
Cystic Fibrosis
Male infertility OMIM:219700

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 Etv4

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 Etv4.

No publications found that use IMPC mice or data for Etv4.

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MGI Allele Allele Type Produced
Etv4em1(IMPC)KMPC Exon Deletion Mice
Etv4tm83(L1L2_gt1) Targeting vectors

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