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Gene: Slc41a2 MGI:2442940

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Gene Summary

Name:
solute carrier family 41, member 2
Synonyms:
A230035L05Rik

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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
prolonged QRS complex duration Slc41a2em1(IMPC)J HOM Late adult 6.99×10-09
abnormal vocalization Slc41a2em1(IMPC)J HOM Early adult 2.94×10-10
abnormal coat/hair pigmentation Slc41a2em1(IMPC)J HOM Early adult 7.09×10-08

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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.

Eye Morphology

Images Ophthalmoscopy

7 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Human diseases caused by Slc41a2 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 Slc41a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy ORPHA:171445
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Obesity And Hypopigmentation
Red hair OMIM:620195
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Myotonic Dystrophy 2
Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block OMIM:602668
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation OMIM:619576
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Myocardial infarction, Pulmonic ste... ORPHA:500
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Right bundle branch block, Abnormal EKG ORPHA:268
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block OMIM:619322
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s... OMIM:151100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b... OMIM:617506
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Prolonged QT interval, Cardiomyopathy ORPHA:373
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... ORPHA:79430
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... ORPHA:84064
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure OMIM:617403
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block OMIM:617402
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Vici Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism OMIM:242840
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Degcags Syndrome
Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... OMIM:619488
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair ORPHA:818
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Hypopi... OMIM:219800

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 Slc41a2

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 Slc41a2.

No publications found that use IMPC mice or data for Slc41a2.

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
Slc41a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Slc41a2tm42899(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc41a2tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Slc41a2tm42899(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc41a2em1(IMPC)J Exon Deletion Mice

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