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Gene: Pou4f1 MGI:102525

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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:
POU domain, class 4, transcription factor 1
Synonyms:
Brn-3,  Brn3a,  Brn3,  Brn-3.0,  E130119J07Rik

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IMPC Data Collections

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

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.

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 Pou4f1 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.

The table below shows human diseases associated to Pou4f1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Cerebellar hypoplasia, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Intention tremor, Dysmetria, Ataxia OMIM:619352

The table below shows human diseases predicted to be associated to Pou4f1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atrophy/Degeneration ... ORPHA:99852
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI, Ataxia OMIM:616781
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Rhombencephalosynapsis, Dysphagia, Anterior... ORPHA:280195
Joubert Syndrome 28
Optic disc pallor, Molar tooth sign on MRI, Ataxia OMIM:617121
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal nerve conduction velocity, Optic atroph... ORPHA:98755
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI, Ataxia OMIM:617562
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Lethal Congenital Contracture Syndrome 8
Death in infancy, Neonatal death OMIM:616287
Joubert Syndrome 20
Aggressive behavior, Self-mutilation, Molar tooth sign on MRI OMIM:614970
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Dysphagia, Abnormal autonomic nervous system physiology, A... ORPHA:363722
Adult Krabbe Disease
Abnormal midbrain morphology, Delayed brainstem auditory evoked response conduction time, Abnorma... ORPHA:206448
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su... OMIM:610688
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brai... ORPHA:467166
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Frequent temper tantrums, Dysmetria, Polyphagia, Molar tooth sign o... OMIM:300804
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Stuve-Wiedemann Syndrome 2
Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Death in infancy, Neonatal death OMIM:620265
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death OMIM:615228
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI OMIM:617761
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Decreased thalamic volume, Hypoplasia of the pons, Hypoplasia of the brainstem, Ab... ORPHA:370959
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Optic disc coloboma, Hypoplasi... OMIM:213300
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI, Ataxia OMIM:617757
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Neonatal death OMIM:614096
Ichthyosis, Congenital, Autosomal Recessive 4B
Death in infancy, Neonatal death OMIM:242500
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Joubert Syndrome 27
Gait ataxia, Molar tooth sign on MRI, Ataxia OMIM:617120
Gangliocytoma
Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Par... ORPHA:251937
Japanese Encephalitis
Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Abnormal thalamus morpho... ORPHA:79139
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Joubert Syndrome 8
Optic disc pallor, Molar tooth sign on MRI, Ataxia OMIM:612291
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Joubert Syndrome 7
Ataxia, Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Gait ataxia, Intention tremor, Dysmetr... ORPHA:93256
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve ORPHA:449563
Joubert Syndrome 14
Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI... OMIM:614424
Coach Syndrome 3
Molar tooth sign on MRI, Ataxia OMIM:619113
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, At... OMIM:618161
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Coach Syndrome 1
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia, Optic disc pallor, Dystonia, Aplas... OMIM:216360
Joubert Syndrome 2
Dysgenesis of the cerebellar vermis, Optic disc coloboma, Hypoplasia of the brainstem, Brainstem ... OMIM:608091
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death OMIM:619334
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Tremor, Aganglionic megacolon, Molar tooth sign on MRI, Ataxia ORPHA:220497
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, At... OMIM:608629
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:615665
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Restlessness, Abnormal cereb... ORPHA:68
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Tremor, Aganglionic megacolon, Molar tooth sign on MRI, Ataxia ORPHA:220493
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619111
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death OMIM:613730
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia ORPHA:2318
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Self-injurious behavior, Polydipsia, Impaired pain sensation, Incre... ORPHA:293987
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology, Pineal cyst, Hyperactivity OMIM:617516
Arima Syndrome
Optic atrophy, Cerebellar vermis hypoplasia, Polydipsia, Hypoplasia of the brainstem, Brainstem d... OMIM:243910
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Neonatal death OMIM:613390
Joubert Syndrome 18
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:614815
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Fusion of the left and right thalami, ... OMIM:619306
Slc35A2-Cdg
Abnormal midbrain morphology, Dandy-Walker malformation, Cerebellar atrophy, Atrophy/Degeneration... ORPHA:356961
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Self-mutilation, Abnormal midbrain morphology, Abnormal pituita... ORPHA:314621
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Inferior cerebellar vermis hypoplasia, Cerebe... OMIM:619476
Meckel Syndrome, Type 10
Cerebellar hypoplasia, Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614175
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Dilated third ventricle, Dysgenesis of the cerebellar vermis, Abnor... ORPHA:397715
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cerebellar atrophy, Death in childhood, Decreased pineal volume OMIM:301108
Afibrinogenemia, Congenital
Death in adolescence, Death in childhood, Death in infancy, Neonatal death OMIM:202400
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Boomerang Dysplasia
Neonatal death OMIM:112310
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Fetal Gaucher Disease
Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Joubert Syndrome 5
Aggressive behavior, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Ataxia, Age... OMIM:610188
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ataxia OMIM:617563
Joubert Syndrome 39
Pain insensitivity, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619562
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:611134
Abcd Syndrome
Neonatal death OMIM:600501
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Tremor, Hypothalamic hamartoma, Molar tooth sign on MRI, Ataxia ORPHA:2754
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo... ORPHA:444072
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Neonatal death OMIM:618839
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Compulsive behaviors, Abnormality of the pineal gland, Tongue thrusting, Aggressive behavior ORPHA:369950
Cerebellofaciodental Syndrome
Cerebellar hypoplasia, Aggressive behavior, Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Wilson Disease
Hand tremor, Face of the giant panda sign, Decreased nerve conduction velocity, Limb dystonia, Tr... OMIM:277900
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Tremor ORPHA:69665
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cerebellar hypoplasia, Dandy-Walker malformation, Molar tooth sign on MRI, Stillbirth OMIM:616300
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Mednik Syndrome
Death in childhood, Death in infancy, Neonatal death OMIM:609313
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Hypothalamic hamartoma, Molar tooth sign on MRI OMIM:277170
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Dysgenesis of the cerebellar vermis, Molar tooth sign on MRI OMIM:619479
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Absent mesencephalon, Poorly formed metencephalon OMIM:601374
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal death OMIM:265120
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Bruxism, Polyphagia, Attention deficit hyp... OMIM:615873
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Abnormality of peripheral ne... OMIM:601992
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:616546
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Decreased response to growth hormone stimulation test, Inappropriate laughter, Ove... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Inappropriate laughter, Ove... ORPHA:363958
Rabson-Mendenhall Syndrome
Polydipsia, Increased pineal volume ORPHA:769
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Tremor, Cerebellar hypoplasia, Aggressive behavior, Pineal cyst, Ataxia, Impulsivity OMIM:300967
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Optic disc coloboma, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:615948
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypical body rocking, Gait ataxia, Cerebellar hypoplasia, Repetitive compulsive behavior, P... ORPHA:513456
Meckel Syndrome, Type 1
Chiari malformation, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI, Da... OMIM:249000
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Dandy-Walker malformation, Molar tooth sign on... ORPHA:434179
17Q24.2 Microdeletion Syndrome
Aggressive behavior, Pineal cyst ORPHA:529962
Oculoectodermal Syndrome
Pineal cyst, Hyperactivity OMIM:600268
Neutral Lipid Storage Myopathy
Pineal cyst ORPHA:98908
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Cerebellar hypoplasia, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Intention tremor, Dysmetria, Ataxia OMIM:619352

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 Pou4f1

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 Pou4f1.

No publications found that use IMPC mice or data for Pou4f1.

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MGI Allele Allele Type Produced
Pou4f1tm96360(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pou4f1tm373717(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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