Gene Summary

Name:
C2 calcium-dependent domain containing 2-like
Synonyms:
1300006O23Rik,  Tmem24

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 C2cd2lem1(IMPC)J HOM   Early adult 8.52×10-07
decreased exploration in new environment C2cd2lem1(IMPC)J HOM Early adult 1.67×10-05
shortened PR interval C2cd2lem1(IMPC)J HOM   Early adult 5.68×10-05
decreased startle reflex C2cd2lem1(IMPC)J HOM   Early adult 1.57×10-06

Download data as:  TSV  XLS

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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.

Electrocardiogram (ECG)

Waveform Image

14 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by C2cd2l 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 C2cd2l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Hearing impairment, Increased heart rate variability, Bradycardia OMIM:614896
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Congenital sensorineural hearing impairment, Sudden cardiac death, Prolonged ... OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... OMIM:616648
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... ORPHA:137675
Nathalie Syndrome
Hearing impairment, Abnormal EKG OMIM:255990
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Low-output conge... ORPHA:308552
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Dementia, Increased left ventricular end-diastolic volume, Syncope, Dil... OMIM:613697
Thyrotoxic Periodic Paralysis
Palpitations, Shortened PR interval, Tremor, Second degree atrioventricular block, Ventricular fi... ORPHA:79102
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at... OMIM:620066
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... OMIM:612347
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... ORPHA:52368
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Cognitive impairment, Vasculitis, Heart murmur, Short... ORPHA:365
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac... ORPHA:101016
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Hypsarrhythmia, Prolonged PR interval... ORPHA:542306
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... ORPHA:206443
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, Co... ORPHA:99027
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Irritability, Mental deterioration, Progressiv... ORPHA:206436
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Tachycardia, Anxiety, Hypertension OMIM:184850
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Head titubation ORPHA:3240
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cognitive impairment ORPHA:1177
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Hypotension, Athetos... OMIM:608643
Adult Krabbe Disease
Mental deterioration, EEG abnormality, Progressive neurologic deterioration, Prolonged brainstem ... ORPHA:206448
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... ORPHA:101085
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Wild Type Attr Amyloidosis
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:330001
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... ORPHA:909
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Abnormality of peripheral nerve conduction, Optic atrophy, T... ORPHA:90321
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Short-seg... OMIM:609136
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Tinnitus, Prom... ORPHA:358
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, Macrotia OMIM:615574
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia ORPHA:79330
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Steinert Myotonic Dystrophy
Facial diplegia, Supraventricular tachycardia, Prolonged QRS complex, Cognitive impairment, Menta... ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, External ear malformation, Exaggerated startle response, Anxiety ORPHA:438216
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Anxiety, Memory impairment, Optic atrophy, Trem... ORPHA:845
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Mend Syndrome
Low-set ears, Aortic valve stenosis, Aggressive behavior, Abnormal auditory evoked potentials ORPHA:401973
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Al Amyloidosis
Abnormal P wave, Jaw claudication, Autonomic erectile dysfunction, Abnormal autonomic nervous sys... ORPHA:85443
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Optic atrophy, Low-set ears, Posteriorly rota... OMIM:617527
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Macrotia, Hearing impairment, Cardiomyopathy ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Optic atrophy, Dilated cardiomyopathy, Exaggerated startle response OMIM:253800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Abnormal EKG, Right bundle branch block, Brachial ple... ORPHA:268
Heart Block, Congenital
Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Cardiomyopathy, Atrioventr... OMIM:234700
Friedreich Ataxia And Congenital Glaucoma
Concentric hypertrophic cardiomyopathy, Decreased amplitude of sensory action potentials, Abnorma... OMIM:229310
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Abnormal EKG, Congestive heart failure, Concentric hy... OMIM:601992
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
African Trypanosomiasis
Apathy, Papilledema, Anxiety, Arrhythmia, Myocarditis, Third degree atrioventricular block, Tremo... ORPHA:3385
Absence Of The Pulmonary Artery
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr... ORPHA:980
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormality of peripheral nerve conduction, Abnormal EKG, Congestive heart failure, Concentric hy... OMIM:302900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Pulmonic stenosis, Optic disc pallor, Exaggerated startle response, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microtia, Small earlobe, Low-set ears, Posteriorly rotated ears OMIM:619522

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 C2cd2l

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 C2cd2l.

No publications found that use IMPC mice or data for C2cd2l.

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MGI Allele Allele Type Produced
C2cd2ltm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C2cd2ltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C2cd2ltm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C2cd2lem1(IMPC)J Exon Deletion Mice
C2cd2ltm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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