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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
Nonprogressive cerebellar ataxia, Ataxia, Positive Romberg sign, Intention tremor, Cerebellar hyp... ORPHA:314647
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Intention tremor, Ataxia, Dysmetria 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
Hernia, Anterior Diaphragmatic
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
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Abnormal brain... ORPHA:99852
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology, Dysphagia, Rhombencephalosynapsis, Anterior... ORPHA:280195
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Progressive cerebellar ataxia, Atrophy/Degenerat... ORPHA:98755
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:616781
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor, Ataxia OMIM:617121
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Ataxia, Elongated superior cerebellar peduncle, Molar too... OMIM:609583
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:617562
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Lethal Congenital Contracture Syndrome 8
Death in infancy, Neonatal death OMIM:616287
Adult Krabbe Disease
Abnormal pons morphology, Somatic sensory dysfunction, Ataxia, Acroparesthesia, Abnormal medulla ... ORPHA:206448
Alexander Disease Type Ii
Dysphagia, Abnormal medulla oblongata morphology, Abnormal autonomic nervous system physiology, A... ORPHA:363722
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Tubulinopathy-Associated Dysgyria
Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Attention deficit hyperactivity di... ORPHA:467166
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Ataxia, Cerebellar cyst, Abnormal br... ORPHA:370022
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Stuve-Wiedemann Syndrome 2
Stillbirth, Death in adolescence, Neonatal death OMIM:619751
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
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Ataxia OMIM:617757
Congenital Muscular Dystrophy With Cerebellar Involvement
Olivopontocerebellar hypoplasia, Abnormal brainstem morphology, Hypoplasia of the pons, Cerebella... ORPHA:370959
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
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
Molar tooth sign on MRI, Gait ataxia, Ataxia OMIM:617120
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Ataxia, Elongated superior cerebellar peduncle, Hypoplasi... OMIM:610688
Gangliocytoma
Polyphagia, Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, ... ORPHA:251937
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Joubert Syndrome 8
Molar tooth sign on MRI, Optic disc pallor, Ataxia OMIM:612291
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Joubert Syndrome 1
Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Hyperactivity, Ataxia, Brains... OMIM:213300
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Joubert Syndrome 7
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem, Ataxia OMIM:611560
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve ORPHA:449563
Joubert Syndrome 14
Agenesis of cerebellar vermis, Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Opti... OMIM:614424
Japanese Encephalitis
Abnormal pons morphology, Choreoathetosis, Abnormal substantia nigra morphology, Decreased motor ... ORPHA:79139
Coach Syndrome 3
Molar tooth sign on MRI, Ataxia OMIM:619113
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At... OMIM:618161
Coach Syndrome 1
Ataxia, Optic disc pallor, Aplasia/Hypoplasia of the cerebellar vermis, Molar tooth sign on MRI, ... OMIM:216360
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 2
Thickened superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... OMIM:608091
Joubert Syndrome With Renal Defect
Ataxia, Aganglionic megacolon, Tremor, Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:220497
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Restlessness, Abnormal hypotha... ORPHA:68
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At... OMIM:608629
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Ataxia, Dysesthesia, Abnormal brainstem morphology, Abnormal autonomi... ORPHA:93256
Joubert Syndrome With Ocular Defect
Ataxia, Aganglionic megacolon, Tremor, Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:220493
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Dandy-Walker malformation, Elevated circulating thy... ORPHA:356961
Coach Syndrome 2
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619111
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology, Pineal cyst, Hyperactivity OMIM:617516
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Ataxia, Cerebellar vermis hypoplasia, Aganglionic megacolon ORPHA:2318
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death OMIM:613730
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Dandy-Walker malformation, Dilated fourth ventricle, Cerebellar hypoplasia OMIM:614175
Arima Syndrome
Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Polydipsia, Hypoplasia of the brainst... OMIM:243910
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Neonatal death OMIM:613390
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Molar tooth sign on M... OMIM:619306
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Joubert Syndrome 18
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:614815
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Joubert Syndrome 38
Inferior cerebellar vermis hypoplasia, Small pituitary gland, Decreased response to growth hormon... OMIM:619476
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Dysgenesis of the cerebellar vermis, Elongated superior cerebella... ORPHA:397715
Afibrinogenemia, Congenital
Death in childhood, Death in infancy, Death in adolescence, Neonatal death OMIM:202400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Impaired pain sensation, Increased circulating prolactin concentration, Abnormal auto... ORPHA:293987
Boomerang Dysplasia
Neonatal death OMIM:112310
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Fetal Gaucher Disease
Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ataxia OMIM:617563
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Abnormality of the pituitary gland, Abnormal hypothalamus morphology ORPHA:314621
Joubert Syndrome 39
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Pain insensitivity OMIM:619562
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Dandy-Walker malformation, Agenesis of cerebellar vermis OMIM:611134
Wilson Disease
Limb dystonia, Hypoesthesia, Hand tremor, Decreased nerve conduction velocity, Dysphagia, Tremor,... OMIM:277900
Abcd Syndrome
Neonatal death OMIM:600501
Orofaciodigital Syndrome Type 6
Ataxia, Tremor, Hypothalamic hamartoma, Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2754
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cereb... 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
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia... OMIM:610188
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Tremor ORPHA:69665
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Molar tooth sign on MRI, Dandy-Walker malformation, Cerebellar hypoplasia OMIM:616300
Mednik Syndrome
Death in childhood, Death in infancy, Neonatal death OMIM:609313
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Hypothalamic hamartoma, Cerebellar vermis hypoplasia OMIM:277170
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Small pituitary gland OMIM:619479
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Absent mesencephalon, Cerebellar dysplasia OMIM:601374
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal death OMIM:265120
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of peripheral nerve conduction, Abnormal medulla oblong... OMIM:601992
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain OMIM:616202
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia OMIM:616546
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland ORPHA:369950
Helsmoortel-Van Der Aa Syndrome
Polyphagia, Hyperactivity, Attention deficit hyperactivity disorder, Decreased response to growth... OMIM:615873
Rabson-Mendenhall Syndrome
Polydipsia, Increased pineal volume ORPHA:769
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Optic nerve hypoplasia, Agenesis of pineal gland ORPHA:536471
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Attention deficit hyperactivity disorder, Decreased response to growth hormone ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Decreased response to growth hormone ... ORPHA:363958
Orofaciodigital Syndrome Xiv
Cerebellar hypoplasia, Optic disc coloboma, Molar tooth sign on MRI, Dandy-Walker malformation, C... OMIM:615948
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Tremor, Cerebellar hypoplasia, Pineal cyst, Impulsivity OMIM:300967
Meckel Syndrome, Type 1
Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI, Chiari malformation, Da... OMIM:249000
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Dandy-Walker malformation, Dilated third ventricle, Dilated fourth ventr... ORPHA:434179
Oculoectodermal Syndrome
Pineal cyst, Hyperactivity OMIM:600268
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Pineal cyst, Cerebellar hypoplasia ORPHA:513456
17Q24.2 Microdeletion Syndrome
Pineal cyst, Decreased response to growth hormone stimulation test ORPHA:529962
Neutral Lipid Storage Myopathy
Pineal cyst ORPHA:98908
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Nonprogressive cerebellar ataxia, Ataxia, Positive Romberg sign, Intention tremor, Cerebellar hyp... ORPHA:314647
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Intention tremor, Ataxia, Dysmetria 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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