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

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 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
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
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormal brainstem morphology, Abnormal aud... ORPHA:99852
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Progressive cerebellar ataxia, Dysmetria, Postur... ORPHA:98755
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morph... ORPHA:280195
Joubert Syndrome 25
Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Joubert Syndrome 28
Optic disc pallor, Ataxia, Molar tooth sign on MRI OMIM:617121
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Ataxia, Cerebellar vermis hypoplasia, Thickened superior ... OMIM:609583
Meckel Syndrome 13
Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Adult Krabbe Disease
Ataxia, Acroparesthesia, Abnormal pons morphology, Abnormal medulla oblongata morphology, Somatic... ORPHA:206448
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 27
Ataxia, Molar tooth sign on MRI OMIM:617120
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Joubert Syndrome 33
Ataxia, Molar tooth sign on MRI OMIM:617767
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Abnormal brainstem morp... ORPHA:370022
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy OMIM:617184
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence OMIM:619751
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Joubert Syndrome 32
Ataxia, Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Abnormal cerebellum morphology, Optic nerve hypoplasia, Hypoplasia of ... ORPHA:370959
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... OMIM:617622
Gangliocytoma
Abnormality of the pituitary gland, Abnormal cerebellum morphology, Pituitary null cell adenoma, ... ORPHA:251937
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign on MRI OMIM:614615
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Cerebellar vermis hypop... OMIM:610688
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Joubert Syndrome 15
Ataxia, Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 8
Optic disc pallor, Ataxia, Molar tooth sign on MRI OMIM:612291
Joubert Syndrome 7
Ataxia, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem OMIM:611560
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve ORPHA:449563
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Arthrogryposis Multiplex Congenita 6
Death in childhood, Neonatal death, Death in infancy OMIM:619334
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on... OMIM:618161
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, Opisthotonus, Pill-rolling tremo... ORPHA:79139
Coach Syndrome 1
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Optic disc pallor, Cerebellar vermis hypopla... OMIM:216360
Coach Syndrome 3
Ataxia, Molar tooth sign on MRI OMIM:619113
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hypothalamic hamartoma OMIM:277170
Joubert Syndrome With Renal Defect
Ataxia, Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aganglionic megacolon ORPHA:220497
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Ataxia, Dysgenesis of the cerebellar vermis, Agenesis of ... OMIM:608091
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Diffuse cerebellar atrophy, Dysmetria, Abnormal autonomic nervous system physiology, Inte... ORPHA:93256
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on... OMIM:608629
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Ataxia, Dysgenesis of the cerebellar vermis, Agenesis of ... OMIM:213300
Joubert Syndrome With Ocular Defect
Ataxia, Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aganglionic megacolon ORPHA:220493
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619111
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign on MRI, Aganglionic megacolon ORPHA:2318
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Death in infancy OMIM:613390
Meckel Syndrome, Type 10
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:614175
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Elevated circulating thyroid-stimulating hormone co... ORPHA:356961
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Ataxia, Abnormal cerebellum morphology, Abnormal hypothalamus morpholog... ORPHA:68
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death OMIM:619003
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death OMIM:610498
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Fusion of the left and r... OMIM:619306
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Death in infancy OMIM:616342
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death OMIM:228940
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulat... ORPHA:293987
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death OMIM:224410
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Inferior cerebellar... OMIM:619476
Afibrinogenemia, Congenital
Death in childhood, Death in adolescence, Neonatal death, Death in infancy OMIM:202400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Dilated third ventricle, ... ORPHA:397715
Boomerang Dysplasia
Neonatal death OMIM:112310
Fetal Gaucher Disease
Stillbirth, Neonatal death, Death in infancy ORPHA:85212
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Tick-Borne Encephalitis
Abnormal autonomic nervous system physiology, Abnormal brainstem MRI signal intensity, Abnormal m... ORPHA:297
Arnold-Chiari Malformation Type Ii
Ataxia, Aqueductal stenosis, Opisthotonus, Abnormal medulla oblongata morphology, Somatic sensory... ORPHA:1136
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Neonatal death OMIM:236500
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Orofaciodigital Syndrome Xvi
Ataxia, Molar tooth sign on MRI OMIM:617563
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Abnormal midbrain morphology ORPHA:314621
Arima Syndrome
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebe... OMIM:243910
Abcd Syndrome
Neonatal death OMIM:600501
Cardiomyopathy, Dilated, 2G
Neonatal death OMIM:619897
Thanatophoric Dysplasia, Type Ii
Neonatal death OMIM:187601
Wilson Disease
Hypoesthesia, Hand tremor, Decreased nerve conduction velocity, Face of the giant panda sign, Tre... OMIM:277900
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death OMIM:601376
Meckel Syndrome, Type 4
Dandy-Walker malformation, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:611134
Orofaciodigital Syndrome Type 6
Ataxia, Hypothalamic hamartoma, Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Pain insensitivity, Molar tooth sign on MRI OMIM:619562
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Abnormal mi... ORPHA:444072
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy OMIM:300219
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Tremor ORPHA:69665
Joubert Syndrome 5
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Thickened sup... OMIM:610188
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Death in childhood, Neonatal death, Death in infancy OMIM:609313
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Small pituitary gland OMIM:619479
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Death in adolescence, Neonatal death, Death in infancy OMIM:619055
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Absent mesencephalon, Cerebellar dysplasia OMIM:601374
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy OMIM:265120
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:616300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Stankiewicz-Isidor Syndrome
Pineal cyst OMIM:617516
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain OMIM:616202
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death OMIM:615501
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:616546
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland ORPHA:369950
Rabson-Mendenhall Syndrome
Polydipsia, Increased pineal volume ORPHA:769
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death OMIM:263200
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Agenesis of pineal gland, Optic disc coloboma ORPHA:536471
Orofaciodigital Syndrome Xiv
Dandy-Walker malformation, Molar tooth sign on MRI, Cerebellar hypoplasia, Optic disc coloboma OMIM:615948
Meacham Syndrome
Death in childhood, Stillbirth, Neonatal death, Death in infancy OMIM:608978
Meckel Syndrome, Type 1
Dilated fourth ventricle, Cerebellar hypoplasia, Chiari malformation, Molar tooth sign on MRI, Da... OMIM:249000
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Pineal cyst, Chiari type I malformation, Decreased response to growth hormone stim... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Pineal cyst, Chiari type I malformation, Decreased response to growth hormone stim... ORPHA:363958
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on MRI, Dandy-Walker malforma... ORPHA:434179
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Tremor, Ataxia, Cerebellar hypoplasia, Pineal cyst OMIM:300967
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Pineal cyst, Gait ataxia, Cerebellar hypoplasia ORPHA:513456
Visceral Steatosis, Congenital
Neonatal death OMIM:228100
17Q24.2 Microdeletion Syndrome
Pineal cyst ORPHA:529962
Neutral Lipid Storage Myopathy
Pineal cyst ORPHA:98908
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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