Gene Summary

Name:
sorting nexin 29
Synonyms:
Rundc2a,  LOC381035,  Gm11170,  4933437K13Rik,  LOC385605

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
abnormal auditory brainstem response Snx29tm1b(EUCOMM)Hmgu HOM   Early adult 8.60×10-05
decreased food intake Snx29tm1b(EUCOMM)Hmgu HOM Early adult 9.73×10-05
decreased heart rate Snx29tm1b(EUCOMM)Hmgu HOM Early adult 6.83×10-05

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

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Snx29 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 Snx29 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Hearing impairment OMIM:614896
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Abnormal autonomic ... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Dysphagia OMIM:616276
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Congenital sensorineural hearing... OMIM:220400
Optic Atrophy 8
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Mitral regurgitation, Prol... OMIM:616648
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Sensorineural hearing impairment, Sudden cardiac death, Prolonged QT interval... OMIM:612347
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, EEG abnormality, Hypertrophic cardiomyopathy OMIM:618815
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, H... ORPHA:542306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Dysphagia, Absent brainstem audi... OMIM:617519
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Autonomic bladder dysfunction, Abnormal EKG, Hypertrophic c... ORPHA:330001
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Sensorineural hearing impairment OMIM:617248
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Dyspha... ORPHA:3299
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Arrhythmia, Cardiomyopathy, Dysphagia, Bradycardia OMIM:609286
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Bilateral sensorineural hearing impairm... ORPHA:90647
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Hydroxykynureninuria
Tachycardia, Hypotension, Hearing impairment OMIM:236800
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Oral-pharyngeal dysphagia, Cranial nerve compression, Syncope, Abn... ORPHA:221098
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Prominent antihelix, Macrotia, Atrioventricular block OMIM:614407
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Illum Syndrome
Bradycardia OMIM:208155
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Microtia, Bilateral sensorineural hearing impair... ORPHA:40366
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Glutamine Deficiency, Congenital
Bradycardia, Low-set ears OMIM:610015
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Absent brainstem au... ORPHA:1215
Familial Thyroid Dyshormonogenesis
Bradycardia, Sensorineural hearing impairment ORPHA:95716
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Decreased nerve conduction velocity, Optic disc pallor, Bradycardia, Hypsarrhythmia ORPHA:565624
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Dysphagia, Bradycardia, Tachycardia OMIM:613327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Low-set ears OMIM:614653
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Tachycardia OMIM:221400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy, Papilledema OMIM:618775
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Neuroleptic Malignant Syndrome
Arrhythmia, Pulmonary embolism, Hypotension, Abnormal autonomic nervous system physiology, Hypert... ORPHA:94093
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Prolonged brainstem audi... ORPHA:206443
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Proximal Spinal Muscular Atrophy
Bradycardia, Facial diplegia, Dysphagia ORPHA:70
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypertension, Po... OMIM:613870
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Hypotension, Myocarditis, Dysphagia, Bradycardia, Shock ORPHA:319213
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Pulsatile tinnitus, Tachycardia OMIM:605373
Paragangliomas 1
Pulsatile tinnitus, Conductive hearing impairment, Hypertension associated with pheochromocytoma,... OMIM:168000
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Sheehan Syndrome
Palpitations, Sensorineural hearing impairment, Orthostatic hypotension, Bradycardia ORPHA:91355
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Encephalitis Lethargica
Bradycardia ORPHA:83600
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormal hea... ORPHA:206436
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Bradycardia, Optic atrophy ORPHA:97297
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Portal hypertension, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic ... OMIM:609136
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Hypotension, Capillary leak, Pericarditis, Bradycardia, ... ORPHA:99826
Cockayne Syndrome Type 1
Hearing impairment, Hypertension, Macrotia, Absent brainstem auditory responses, Optic atrophy, A... ORPHA:90321
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Yellow Fever
Reduced ejection fraction, Capillary leak, Supraventricular arrhythmia, Hematemesis, Bradycardia,... ORPHA:99829
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency, Low-set ears OMIM:614437
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Sensorineural hearing impairment, Optic nerve hypoplasia ORPHA:226307
Cockayne Syndrome B
Arrhythmia, Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal audit... OMIM:133540
Cockayne Syndrome A
Arrhythmia, Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal audit... OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy ORPHA:79404
Paragangliomas 4
Palpitations, Hypertension associated with pheochromocytoma, Pulsatile tinnitus, Tachycardia OMIM:115310
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Dysphagia OMIM:619482
Mend Syndrome
Abnormal auditory evoked potentials, Aortic valve stenosis, Low-set ears ORPHA:401973

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 Snx29

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 Snx29.

No publications found that use IMPC mice or data for Snx29.

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MGI Allele Allele Type Produced
Snx29tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Snx29tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Snx29tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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