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Gene: AB124611 MGI:3043001

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Gene Summary

Name:
cDNA sequence AB124611
Synonyms:
LOC382062,  HIDE1

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
abnormal heart morphology AB124611tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart AB124611tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology AB124611tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology AB124611tm1.1(KOMP)Vlcg HOM Early adult 0.00
shortened QRS complex duration AB124611tm1.1(KOMP)Vlcg HOM Early adult 4.84×10-05
enlarged epididymis AB124611tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

11 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Hind Leg and Hip

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by AB124611 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 AB124611 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Muscular Dystrophy, Cardiac Type
Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure OMIM:300886
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy... ORPHA:85447
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... OMIM:613507
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Nathalie Syndrome
Abnormal EKG OMIM:255990
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep... ORPHA:263297
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive... OMIM:614096
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec... OMIM:618652
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Congestive heart failure, Decreased testicular... OMIM:610198
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotrop... OMIM:235200
Wild Type Attr Amyloidosis
Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome OMIM:269920
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Abnormality of the ureter, Situs inversus totalis, Abnor... ORPHA:1666
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H... OMIM:255160
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Oliguria, Right ventricular failure, Abnormal lef... ORPHA:97292
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, End... OMIM:212140
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right... ORPHA:3427
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Cardiomegaly, Arrhythmia, Abnormal renal physiology OMIM:266500
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp... ORPHA:85443
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... OMIM:300280
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... OMIM:256550
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Cardiomegaly... ORPHA:268
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, E... OMIM:201475
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia... OMIM:620294
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cardiomegaly, Arrhythmia, Hepatome... ORPHA:42
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... OMIM:616897
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis, Hepatomegaly, ... ORPHA:99931
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogo... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome, Car... OMIM:617713
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventri... ORPHA:308552
Von Hippel-Lindau Disease
Cardiomyopathy, Abnormal left ventricular function, Palpitations, Elevated urinary catecholamine ... ORPHA:892
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Arrhythmia, Hepatomegaly OMIM:255120
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepato... ORPHA:228308
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ... OMIM:232300
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly, Cerebral hemorrhage, Hypertension OMIM:618886
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Cardiomegaly, Hypertensi... OMIM:208000
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal... OMIM:130650
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, ... OMIM:614921
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Congenital Sialidosis Type 2
Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia, Hepatomegaly ORPHA:93400
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Von Hippel-Lindau Syndrome
Hypertension, Epididymal cyst, Papillary cystadenoma of the epididymis, Multiple renal cysts OMIM:193300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Vent... OMIM:602782
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Renal insufficiency, Hydronephrosis, Cardiomegaly, Arrhythmia, Long-chain... OMIM:608836
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri... ORPHA:79330
Sickle Cell Disease
Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly, Hypertension OMIM:603903
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure OMIM:619259
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H... ORPHA:231625
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiom... OMIM:105210
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Syncope, Orthostatic hypotens... ORPHA:230
Ogden Syndrome
Torsade de pointes, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia,... OMIM:300855
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ureteropelvic junction obstruction, Cryptorchidism, Mitral valve prolapse, Ventr... ORPHA:444072
Gitelman Syndrome
Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Prolonged PR interv... ORPHA:358
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Ketonuria, Abnormal EKG ORPHA:480864
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Cryptorchidism, H... ORPHA:648
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Nephrocalcinosis, Varicocele, Tetralogy of Fallot, Stage 5 chron... ORPHA:2044
Mucopolysaccharidosis Type 3
Atrioventricular block, Heparan sulfate excretion in urine, Reduced left ventricular ejection fra... ORPHA:581
Scorpion Envenomation
Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Prominent U wave, Congestive heart... ORPHA:466677
Floating-Harbor Syndrome
Varicocele, Nephrocalcinosis, Glandular hypospadias, Cryptorchidism, Mesocardia, Hydronephrosis, ... OMIM:136140
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Oligosacchariduria, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened... ORPHA:365
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia... OMIM:241080
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Mitral... OMIM:252500
Cocaine Intoxication
Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ... ORPHA:90068
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Cryptorchidism, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage,... OMIM:620371
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Williams Syndrome
Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid ao... ORPHA:904
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis,... ORPHA:3464
Fucosidosis
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria OMIM:230000
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Cryptorchidism, S... ORPHA:116
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism,... ORPHA:3472
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Epididymitis, Congenital hydrocele,... OMIM:620376
Bohring-Opitz Syndrome
Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology, Bradycardia ORPHA:97297
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave ORPHA:2131
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon, Micropenis ORPHA:51
Liver Disease, Severe Congenital
Aminoaciduria, Abnormal left ventricular function, Dilatation of the ventricular cavity, Splenome... OMIM:619991
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure ORPHA:14
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Splenomegaly, Cardiomegaly, Arrhythmia, Hepatomegaly, Epididymitis OMIM:256040
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Exercise-Induced Malignant Hyperthermia
Hypotension, Acute kidney injury, Oliguria, Abnormal pulse pressure, Sinus tachycardia, Abnormal ... ORPHA:466650
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis,... ORPHA:51608
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral... OMIM:182250

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 AB124611

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 AB124611.

No publications found that use IMPC mice or data for AB124611.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
AB124611tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
AB124611tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
AB124611tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
AB124611tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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