Gene Summary

Name:
dedicator of cytokinesis 4
Synonyms:
6330411N01Rik,  EST N28122

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
abnormal behavior Dock4em1(IMPC)Hmgu HOM Early adult 2.04×10-05
increased grip strength Dock4em1(IMPC)Hmgu HOM   Early adult 9.84×10-05
abnormal startle reflex Dock4em1(IMPC)Hmgu HOM Early adult 1.18×10-05
decreased thigmotaxis Dock4em1(IMPC)Hmgu HOM Early adult 2.04×10-05
enlarged uterus Dock4em1(IMPC)Hmgu HOM Early adult 0.00
decreased anxiety-related response Dock4em1(IMPC)Hmgu HOM Early adult 1.25×10-05

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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 Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Dock4 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 Dock4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Ab... ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus OMIM:619151
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,... OMIM:608800
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Depression, Fe... ORPHA:432
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Caudal Duplication
Uterus didelphys, Abnormal penis morphology, Cryptorchidism ORPHA:1756
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response OMIM:616881
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Agitation, Tremor, Exaggerated startle response OMIM:618056
Omodysplasia 2
Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidism, Micropenis OMIM:164745
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response OMIM:617864
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod... OMIM:194080
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Tay-Sachs Disease
Depression, Tremor, Laryngeal dystonia, Exaggerated startle response, Precocious puberty, Dystoni... ORPHA:845
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia OMIM:620423
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Tremor, Exaggerated startle response OMIM:620327
Ehlers-Danlos Syndrome, Classic-Like, 1
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Bicornuate uterus, Hydrocele testis OMIM:145420
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis OMIM:140000
Prune Belly Syndrome
Decreased testicular size, Cryptorchidism, Urogenital sinus anomaly, Abnormality of the uterus ORPHA:2970
Duplication Of Urethra
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... ORPHA:237
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Dyst... OMIM:241080
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus ORPHA:958
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Asparagine Synthetase Deficiency
Irritability, Tremor, Exaggerated startle response OMIM:615574
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Absent vas deferens, Hypospadias, Bicornuate uterus, Papillary cystadenoma of the epi... ORPHA:93111
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response ORPHA:521426
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Dysphagia, Shawl scrotum, Enlarged ovaries, Crypto... ORPHA:2745
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina OMIM:300707
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism, Pica OMIM:614527
Alg9-Cdg
Hypoplasia of the ovary, Irritability, Bicornuate uterus, Torticollis ORPHA:79328
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary ORPHA:243
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response OMIM:617527
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Dysphagia, Exaggerated startle response OMIM:618367
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Hyperactivity, Bifid scrotum, Bicornuate uterus, Precocious... OMIM:270400
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic labia minora, Bicornuate uterus, Opisthotonus, Small scrotum, Micropenis... OMIM:269150
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Acrorenal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus, Unicornuate uterus OMIM:200980
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Sandhoff Disease
Exaggerated startle response OMIM:268800
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Abnormality of the uterus, Vaginal atresia, Cryptorchidism, M... ORPHA:1655
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt... OMIM:263650
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus ORPHA:140952
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia OMIM:618419
Meacham Syndrome
Blind vagina, Septate vagina, Bicornuate uterus, Male pseudohermaphroditism OMIM:608978
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Microsporidiosis
Anorexia, Abnormal endometrium morphology, Prostatitis, Abnormal fallopian tube morphology ORPHA:2552
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuate uterus, Abnormal testis morph... ORPHA:84
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Currarino Syndrome
Septate vagina, Bicornuate uterus, Rectovaginal fistula OMIM:176450
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, A... ORPHA:99776
7Q11.23 Microduplication Syndrome
Hypospadias, Hyperactivity, Polyphagia, Aplasia/hypoplasia of the uterus, Collectionism, Motor st... ORPHA:96121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Micropenis OMIM:617925
Norrie Disease
Irritability, Cryptorchidism, Motor stereotypy, Attention deficit hyperactivity disorder, Self-in... ORPHA:649
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Waardenburg Syndrome
Abnormality of the uterus, Abnormal vagina morphology ORPHA:3440
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus ORPHA:2470
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Imperforate hymen, Hematocolpos, Exaggerated startle response, Chordee, Dysphagia, M... OMIM:619522
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Fryns Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Cryptorchidism OMIM:229850
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Pagod Syndrome
Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uterus, Agonadism, A... ORPHA:991
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Stereotypical hand wringing, Exaggerated startle response, Precocious puberty, Uterine prolapse, ... ORPHA:438213
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Cryptorchidism, Micropenis OMIM:219000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of the uterus, Cryptorchidism, Non-... ORPHA:2232
Fraser Syndrome
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... ORPHA:2052
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low frustration tolerance, Impulsivity, Cryptorchidism, Unicornuate uterus, Stereotypical body ro... OMIM:619503
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Compulsive behavi... ORPHA:353281
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Hypoplasia of penis ORPHA:3138
Fanconi Anemia, Complementation Group L
Attention deficit hyperactivity disorder, Aplasia of the uterus, Micropenis OMIM:614083
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Ulnar-Mammary Syndrome
Imperforate hymen, Bicornuate uterus, Small scrotum, Shawl scrotum, Micropenis OMIM:181450
Okamoto Syndrome
Bifid uterus ORPHA:2729
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus, Dysphagia ORPHA:2363
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicornuate uterus, Hypospadias OMIM:265380
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Renal Agenesis
Aplasia/hypoplasia of the uterus, Absent vas deferens ORPHA:411709
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
22Q11.2 Deletion Syndrome
Hypospadias, Depression, Abnormality of the uterus, Attention deficit hyperactivity disorder, Cry... ORPHA:567
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... ORPHA:353277
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia ORPHA:709
Cowden Syndrome
Enlarged polycystic ovaries, Endometrial carcinoma, Abnormality of the uterus, Abnormal penis mor... ORPHA:201
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Hermansky-Pudlak Syndrome 6
Perineal fistula, Endometriosis OMIM:614075
Peters-Plus Syndrome
Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of the ute... OMIM:261540
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Abnormality of the uterus, Cryptorchidism... OMIM:249000
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Cornelia De Lange Syndrome
Hypospadias, Hypoplasia of penis, Compulsive behaviors, Abnormality of the uterus, Attention defi... ORPHA:199
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Ambiguous genitalia, Cryptorchidism ORPHA:93271
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Bicornuate uterus, Cryptorc... OMIM:268300
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... OMIM:618280
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Compulsive behaviors, Cryptorchidism, A... OMIM:135900
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Precocious puberty, Motor stereotypy, Cryptorchidism OMIM:194190
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Townes-Brocks Syndrome
Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum... ORPHA:857
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse ORPHA:287
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Cystocele, Uterine prolapse OMIM:613795
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... OMIM:601803

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 Dock4

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 Dock4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Rac/Cdc42 exchange factor complex promotes formation of lateral filopodia and blood vessel lumen morphogenesis. Nature communications (July 2015) Dock4tm1(NCOM)Mfgc PMC4507007

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MGI Allele Allele Type Produced
Dock4em1(IMPC)Hmgu Exon Deletion Mice
Dock4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Dock4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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