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Gene: Brd3 MGI:1914632

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Gene Summary

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

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
preweaning lethality, incomplete penetrance Brd3em1(IMPC)J HOM   Early adult 0.00
decreased thigmotaxis Brd3em1(IMPC)J HOM Early adult 6.71×10-05
abnormal behavior Brd3em1(IMPC)J HOM Early adult 6.71×10-05
prolonged RR interval Brd3em1(IMPC)J HOM Early adult 2.00×10-05
abnormal coat/hair pigmentation Brd3em1(IMPC)J HOM Early adult 5.04×10-05
decreased locomotor activity Brd3em1(IMPC)J HOM Early adult 6.13×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Combined SHIRPA and Dysmorphology

Images

2 Images

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Electroretinography 3

Fundus file

12 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

10 Images

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Electrocardiogram (ECG)

Waveform Image

26 Images

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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
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Fair hair, Aggressive behavior OMIM:618808
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... OMIM:256710
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... ORPHA:2885
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Broad-based gait, Hyperactivity, Ataxia, Hypopigmentation of hair, ... ORPHA:411515
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Cln3 Disease
Ataxia, Aggressive behavior, Depression, Bradykinesia, Pigmentary retinopathy, T-wave inversion, ... ORPHA:228346
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop... ORPHA:33445
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Phenylketonuria
Hyperactivity, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive behaviors, ... OMIM:261600
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... ORPHA:3077
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Waardenburg Syndrome, Type 4A
White eyelashes, Ataxia, White eyebrow, Blue irides, Hypopigmented skin patches, Premature grayin... OMIM:277580
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia, Dysphagia OMIM:620265
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Piebaldism
Hypopigmentation of hair, White eyelashes, Ataxia, White eyebrow, Synophrys, Piebaldism, Hypopigm... ORPHA:2884
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Ataxia OMIM:172850
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Hypopigmentation of hair, Ataxia, Abnormal eating behavior, Tongue thrusting, I... ORPHA:411511
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Iris hypopigmentation ORPHA:177910
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Ataxia, Inability to walk, Congestive heart failure, Dysphagia, Hypertr... ORPHA:70472
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Ataxia-Telangiectasia
Hypopigmentation of hair, Telangiectasia of the skin, Ataxia, Premature graying of hair, Gait dis... ORPHA:100
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Hypopigmentation of hair, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... ORPHA:98795
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, Abnormal eating behavior, Tong... ORPHA:98794
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia OMIM:609286
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin, Polyphagia ORPHA:71526
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Impulsivity, Aggressive behavior, Trichorrhexis nodosa, Sinus ... OMIM:261990
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Classic Phenylketonuria
Hypopigmentation of hair, Depression, Self-injurious behavior, Attention deficit hyperactivity di... ORPHA:79254
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Long eyebrows, Truncal ataxia OMIM:614407
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... OMIM:616812
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Hyperactivity, Fair hair, Blue irides OMIM:614613
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Gait disturbance, Multiple cafe-au-lait spo... ORPHA:3214
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesion... OMIM:160980
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Squalene Synthase Deficiency
Irritability, Abnormality of hair pigmentation OMIM:618156
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Tetanus
Hypertension, Tachycardia, Bradycardia, Dysphagia ORPHA:3299
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop... ORPHA:3322
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Jaw claudication, Depression, Syncope, Bradycardia ORPHA:221098
Congenital Myopathy 22A, Classic
Waddling gait, Tricuspid regurgitation, Synophrys, Bradycardia, Neonatal death OMIM:620351
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia OMIM:610768
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albi... OMIM:214500
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Dysphagia, Hirsutism OMIM:613327
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Mottled pigmentation, Bradycardia ORPHA:226313
Pseudo-Torch Syndrome 2
Lethargy, Bradycardia, Cerebral hemorrhage OMIM:617397
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia OMIM:609734
Necrotizing Enterocolitis
Shock, Lethargy, Bradycardia, Hypotension ORPHA:391673
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premat... ORPHA:163746
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Alopecia totalis OMIM:618775
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epistaxis, Anorexia, Ocu... ORPHA:79430
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Skin-picking, Abnormal temper tantrums, L... ORPHA:398079
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Tip-toe gait, Bradycardia ORPHA:565624
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Illum Syndrome
Bradycardia OMIM:208155
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Impulsivity, Abnormal temper tantrums, Co... ORPHA:398069
D-Glyceric Aciduria
Tongue thrusting, Bradycardia OMIM:220120
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Brittle Cornea Syndrome
Gait disturbance, Abnormality of hair pigmentation, Pulmonic stenosis ORPHA:90354
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking, Dysphagia ORPHA:70
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... ORPHA:98793
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... ORPHA:177904
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... ORPHA:177901
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Hypopigmentation of hair, Head-banging, Abnormal temper tantrums, S... ORPHA:177907
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... ORPHA:98754
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Overfriendliness ORPHA:96169
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, Blotching pigmentation of the skin, Bradycardia OMIM:614653
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphagia, Ar... ORPHA:94093
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Self-injurious behavior, Frontal upsweep ... OMIM:176270
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Epistaxis, Inability to wa... ORPHA:167
Sheehan Syndrome
Orthostatic hypotension, Sparse axillary hair, Sparse pubic hair, Palpitations, Bradycardia, Brea... ORPHA:91355
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit... ORPHA:99827
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation ORPHA:2719
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Syndromic Diarrhea
Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-... ORPHA:84064
Vici Syndrome
Hypopigmentation of hair, Albinism, Congestive heart failure, Dilated cardiomyopathy, Ocular albi... OMIM:242840
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia ORPHA:319213
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Hypertension, Attention deficit hyperacti... ORPHA:739
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub... ORPHA:99826
Degcags Syndrome
Abnormal eyebrow morphology, Tachycardia, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Ab... OMIM:619488
Bohring-Opitz Syndrome
Inability to walk, Synophrys, Bradycardia, Hypertrichosis ORPHA:97297
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Intracranial hemorrhage, Sparse hair, Wool... ORPHA:565
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Bradycardia, Dysphagia OMIM:617248
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Dilated cardiomyopathy, Bradycardia, Nail dystrophy, Anonychia, Abnormality... ORPHA:79404
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Cystinosis, Nephropathic
Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Pigment... OMIM:219800
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Self-injurious behavior, Hypopigmentation of hair, Attention deficit... ORPHA:818
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia 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

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