Gene Summary

Name:
bromodomain containing 3
Synonyms:
2410084F24Rik,  Fsrg2,  ORFX,  RINGL3

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
preweaning lethality, incomplete penetrance Brd3em1(IMPC)J HOM   Early adult 0.00
decreased thigmotaxis Brd3em1(IMPC)J HOM Early adult 7.32×10-05
prolonged RR interval Brd3em1(IMPC)J HOM Early adult 1.95×10-05
increased grip strength Brd3em1(IMPC)J HOM Early adult 1.14×10-05
abnormal behavior Brd3em1(IMPC)J HOM Early adult 7.32×10-05
decreased locomotor activity Brd3em1(IMPC)J HOM Early adult 4.05×10-05
abnormal coat/hair pigmentation Brd3em1(IMPC)J HOM Early adult 4.39×10-05

Download data as:  TSV  XLS

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

5 Images

X-ray

XRay Images Skull Lateral Orientation

5 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

Electroretinography 3

Fundus file

12 Images

X-ray

XRay Images Forepaw

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Electrocardiogram (ECG)

Waveform Image

26 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

10 Images

Human diseases caused by Brd3 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 Brd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Aggressive behavior, Fair hair, Gait ataxia OMIM:618808
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Ataxi... OMIM:256710
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia OMIM:617182
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Hyperactivity, Hypopigmentation of the skin, Polyphag... ORPHA:411515
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Genera... ORPHA:33445
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Broad-based gai... ORPHA:3077
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h... OMIM:610193
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Atax... OMIM:277580
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Dysphagia, Bradycardia OMIM:620265
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Hypopigmentation of... ORPHA:411511
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Polyphagia, Hypopigmentation of hair ORPHA:177910
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular con... OMIM:212138
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Inability to walk, Hypopigmentation of hair, Hypertrophic cardiomyopath... ORPHA:70472
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Gait disturbanc... ORPHA:100
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Hypopigmentation of... ORPHA:98795
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hyperactivity, Tongue thrusting, Hypo... ORPHA:98794
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Depression, Cardiomyopathy, Gait disturbance, Dysphagia, Arrhythmia OMIM:609286
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair, Polyphagia ORPHA:71526
Classic Phenylketonuria
Hypopigmentation of hair, Depression, Hypopigmentation of the skin, Attention deficit hyperactivi... ORPHA:79254
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Abnormal Hair, Joint Laxity, And Developmental Delay
Trichorrhexis nodosa, Aggressive behavior, Small nail, Tricuspid regurgitation, Impulsivity, Spar... OMIM:261990
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Truncal ataxia, Long eyebrows, Bradycardia OMIM:614407
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Hyperactivity, Fair hair OMIM:614613
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Sinus bradycardia, Loss of ambulation, Syncope, Palpitations, Second degree a... OMIM:616812
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Epistaxis, Hematochezia, ... OMIM:203300
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesion... OMIM:160980
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Squalene Synthase Deficiency
Irritability, Abnormality of hair pigmentation OMIM:618156
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Tetanus
Tachycardia, Hypertension, Dysphagia, Bradycardia ORPHA:3299
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Ataxia, Generalized hyperpigmentati... ORPHA:3322
Congenital Myopathy 22A, Classic
Bradycardia, Waddling gait, Tricuspid regurgitation, Synophrys, Neonatal death OMIM:620351
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Bradycardia, Depression, Jaw claudication, Syncope ORPHA:221098
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Alopecia OMIM:610768
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Bradycardia, Atrial fibrillation, Hirsutism, Dysphagia, Tachycardia OMIM:613327
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Spontaneous, recurrent epistaxis, Hypopigmentation of... OMIM:214500
Pseudo-Torch Syndrome 2
Lethargy, Cerebral hemorrhage, Bradycardia OMIM:617397
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Mottled pigmentation, Bradycardia ORPHA:226313
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia OMIM:609734
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Glycogen Storage Disease Iv
Cardiomyopathy, Portal hypertension, Bradycardia OMIM:232500
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Hermansky-Pudlak Syndrome
Anorexia, Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypopigmentation of the skin, Ca... ORPHA:79430
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Ski... ORPHA:398079
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Loss of ambulation, Bradycardia ORPHA:565624
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Compulsive beha... ORPHA:398069
Necrotizing Enterocolitis
Lethargy, Shock, Hypotension, Bradycardia ORPHA:391673
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Brittle Cornea Syndrome
Pulmonic stenosis, Abnormality of hair pigmentation, Gait disturbance ORPHA:90354
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Proximal Spinal Muscular Atrophy
Difficulty walking, Inability to walk, Dysphagia, Bradycardia ORPHA:70
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:98793
D-Glyceric Aciduria
Tongue thrusting, Bradycardia OMIM:220120
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177901
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Attention deficit hyperactivity disorder, Lethargy, Bradycardia ORPHA:90674
Illum Syndrome
Bradycardia OMIM:208155
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Hypopigmentation of hair, Hyperpigmentation of the skin, Head-banging, ... ORPHA:177907
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iri... ORPHA:98754
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia, Lethargy,... OMIM:277400
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair, Overfriendliness ORPHA:96169
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Blotching pigmentation of the skin OMIM:614653
Neuroleptic Malignant Syndrome
Agitation, Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Dysphagia, Arrhythmia, Ta... ORPHA:94093
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Athetosis, Iris hypopigmentation, Ataxia, Ocular albinism ORPHA:2719
Ch├ędiak-Higashi Syndrome
Inability to walk, Hypopigmentation of hair, Hypopigmentation of the skin, Gait disturbance, Larg... ORPHA:167
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, Myocarditis, Anor... ORPHA:99827
Sheehan Syndrome
Breast hypoplasia, Orthostatic hypotension, Bradycardia, Sparse pubic hair, Sparse axillary hair,... ORPHA:91355
Syndromic Diarrhea
Trichorrhexis nodosa, Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Generalized h... ORPHA:84064
Vici Syndrome
Congestive heart failure, Hypopigmentation of hair, Cardiomyopathy, Hypopigmentation of the skin,... OMIM:242840
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Dysphagia, Shock ORPHA:319213
Prader-Willi Syndrome
Hypopigmentation of hair, Hypertension, Hypopigmentation of the skin, Polyphagia, Attention defic... ORPHA:739
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Abnormal eyelash ... OMIM:619488
Marburg Hemorrhagic Fever
Anorexia, Aggressive behavior, Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal he... ORPHA:99826
Bohring-Opitz Syndrome
Bradycardia, Inability to walk, Hypertrichosis, Synophrys ORPHA:97297
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Intracranial hemorrhage, Spar... ORPHA:565
Severe Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Bradycardia, Abnormality of the nail, Anonychia, Dilated cardiomyopathy, Paronych... ORPHA:79404
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Dysphagia, Bradycardia OMIM:617248
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Smith-Lemli-Opitz Syndrome
Attention deficit hyperactivity disorder, Self-injurious behavior, Abnormal eyelash morphology, H... ORPHA:818
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
Cystinosis, Nephropathic
Polydipsia, Hypopigmentation of hair, Hypopigmentation of the skin, Dysphagia, Retinal pigment ep... OMIM:219800
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, N... OMIM:614437

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 Brd3

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 Brd3.

No publications found that use IMPC mice or data for Brd3.

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
Brd3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Brd3tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Brd3em1(IMPC)J Exon Deletion Mice
Brd3tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Brd3tm34188(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Brd3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Brd3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Brd3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter