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Gene: Pou2f3 MGI:102565

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Gene Summary

Name:
POU domain, class 2, transcription factor 3
Synonyms:
Otf-11,  Skn-1a,  Epoc-1,  Skn-li,  Skin-1a,  Otf11,  Oct-11a,  Oct11,  Skin

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Pou2f3tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Pou2f3 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 Pou2f3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Kleine-Levin Syndrome
Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuali... ORPHA:33543
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormality of the sense of smell, Addictive alco... ORPHA:399
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Central Diabetes Insipidus
Polydipsia, Anorexia ORPHA:178029
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Bardet-Biedl Syndrome 17
Hyposmia, Polydipsia, Anosmia OMIM:615994
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Anosmia, Tracheoesophageal fistula, Cleft palate, Polydipsia ORPHA:3157
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:235200
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Brain-Lung-Thyroid Syndrome
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Hypodontia, Compulsive behav... ORPHA:209905
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Familial Cold Urticaria
Polydipsia ORPHA:47045
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Isolated Osteopoikilosis
Addictive alcohol use, Cleft palate ORPHA:166119
Marchiafava-Bignami Disease
Addictive alcohol use, Aggressive behavior ORPHA:221074
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Acute Promyelocytic Leukemia
Anorexia, Gingival overgrowth, Addictive alcohol use, Gingival bleeding, Stomatitis ORPHA:520
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Teratoma, Pineal
Polydipsia OMIM:273120
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Malabsorption ORPHA:213
Methanol Poisoning
Addictive alcohol use ORPHA:31825
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Ochoa Syndrome
Polydipsia ORPHA:2704
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... ORPHA:769
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:465508
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Acute Lung Injury
Addictive alcohol use ORPHA:178320
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly OMIM:608836
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Whipple Disease
Polydipsia, Anorexia, Malabsorption ORPHA:3452
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:614921
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Nephronophthisis 4
Polydipsia OMIM:606966
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use ORPHA:36238
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia ORPHA:369929
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Helix Syndrome
Polydipsia, Xerostomia OMIM:617671
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use ORPHA:90065
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Senior-Boichis Syndrome
Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd... ORPHA:84081
Nephronophthisis 3
Polydipsia OMIM:604387
Nephronophthisis 1
Polydipsia OMIM:256100
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... ORPHA:581
Nephronophthisis 11
Polydipsia OMIM:613550
Toxic Epidermal Necrolysis
Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Dysphagia, Polydipsia ORPHA:537
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Salt craving OMIM:612780
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Renal Hypoplasia
Polydipsia ORPHA:93101
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Panhypophysitis
Polydipsia ORPHA:95513
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Gitelman Syndrome
Polydipsia, Salt craving OMIM:263800
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Ethylene Glycol Poisoning
Addictive alcohol use, Gastritis ORPHA:31826
Porphyria Cutanea Tarda
Addictive alcohol use ORPHA:101330
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Celiac disease, Self-injurious behavior, Everted lower lip vermilion, Compul... ORPHA:293987
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Oligomeganephronia
Polydipsia ORPHA:2260
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Wolfram Syndrome
Polydipsia, Gastric ulcer, Malabsorption ORPHA:3463
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Arima Syndrome
Wide mouth, Polydipsia, Esophageal varix OMIM:243910
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Peptic ulcer, Dysphagia ORPHA:99880
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Parathyroid Carcinoma
Polydipsia, Peptic ulcer, Dysphagia ORPHA:143
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Polydipsia ORPHA:93111
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Erdheim-Chester Disease
Polydipsia ORPHA:35687
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... ORPHA:116
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Cystinosis, Nephropathic
Polydipsia, Dysphagia, Oral-pharyngeal dysphagia OMIM:219800
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Proximal Renal Tubular Acidosis
Polydipsia, Enamel hypomineralization, Malabsorption ORPHA:47159
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Gitelman Syndrome
Polydipsia, Salt craving ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:256040
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Esophageal varix, Fat malabsorption, Protein-losing enteropathy ORPHA:731
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Bartter Syndrome, Type 2, Antenatal
Polydipsia OMIM:241200
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly ORPHA:51608

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 Pou2f3

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 Pou2f3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bile acid-sensitive tuft cells regulate biliary neutrophil influx. Science immunology (March 2022) Pou2f3tm1(KOMP)Vlcg PMC9166270
Tuft-Cell-Derived Leukotrienes Drive Rapid Anti-helminth Immunity in the Small Intestine but Are Dispensable for Anti-protist Immunity. Immunity (March 2020) Pou2f3tm1.1(KOMP)Vlcg PMC7469474
Thymic tuft cells promote an IL-4-enriched medulla and shape thymocyte development. Nature (July 2018) Pou2f3tm1.1(KOMP)Vlcg 30022164
Detection of Succinate by Intestinal Tuft Cells Triggers a Type 2 Innate Immune Circuit. Immunity (July 2018) Pou2f3tm1.1(KOMP)Vlcg PMC6084797
A Metabolite-Triggered Tuft Cell-ILC2 Circuit Drives Small Intestinal Remodeling. Cell (June 2018) Pou2f3tm1.1(KOMP)Vlcg 29887373

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pou2f3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pou2f3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Pou2f3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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