Gene Summary

Name:
calcium response factor
Synonyms:
Als2cr8

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
prolonged ST segment Carftm1.1(KOMP)Vlcg HOM Early adult 9.05×10-07
increased circulating chloride level Carftm1.1(KOMP)Vlcg HOM   Early adult 8.31×10-06
increased circulating sodium level Carftm1.1(KOMP)Vlcg HOM   Early adult 1.56×10-05

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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Epididymis 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 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Submandibular gland 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)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
epididymis 12.78% (17 of 133)
esophagus 1.8% (7 of 388)
eye 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
submandibular gland 1.46% (2 of 137)
testis 1.09% (6 of 552)
thalamus 0.0%
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.74% (6 of 344)
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
eye 0.0%
footplate 0.28% (1 of 358)
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
heart 0.27% (1 of 366)
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
liver 0.3% (1 of 338)
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
midbrain 0.28% (1 of 354)
nose 1.89% (1 of 53)
oral cavity 0.0%
skin 0.29% (1 of 348)
spinal cord 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

9 Images

Adult LacZ

LacZ Images Section

25 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Carf 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 Carf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Schizophrenia
Social and occupational deterioration OMIM:181500
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Cognitive impairment OMIM:614934
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia OMIM:616949
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Muscular Dystrophy, Becker Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:300376
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Elevated systolic blood pressure, Decreased serum creatinine, ... OMIM:300539
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Pu... ORPHA:94093
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level OMIM:610600
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia OMIM:615508
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Cerebral ischemia, Syncope, Prolonged QTc interval, M... ORPHA:90065
Nathalie Syndrome
Abnormal EKG OMIM:255990
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556037
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, ST segment elevation ORPHA:94125
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Nephrogenic Diabetes Insipidus
Hypovolemia, Hypernatremia ORPHA:223
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:177735
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556030
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperkalemia, Hyponatremia OMIM:264350
Cardiomyopathy, Dilated, 1D
Increased circulating brain natriuretic peptide concentration, Sudden cardiac death, Increased le... OMIM:601494
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Liddle Syndrome 3
Hypertension, Hypokalemia OMIM:618126
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... ORPHA:3008
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Arrhythmia, Hyponatremia, Hyperk... ORPHA:682
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Elevated circulating creatine kinase concentration, Palp... OMIM:310300
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:171876
Congenital Isolated Acth Deficiency
Hypotension, Hyponatremia ORPHA:199296
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Increased ... ORPHA:85451
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Scorpion Envenomation
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... ORPHA:466677
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia ORPHA:91354
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Tachycardia, Hyponatremia ORPHA:79273
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Hyponatremi... ORPHA:427
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depression, Elevated circulati... ORPHA:466650
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia ORPHA:83601
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Pulmonary arterial hypertension, Hyperuricemia OMIM:613845
Atrial Standstill 2
Hyperpepsinogenemia I, Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Abnormal T-wave, ST segment depression, Raynaud phenom... ORPHA:358
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Infant Botulism
Hypotension, Cardiac arrest, Hypertension, Hyponatremia ORPHA:178478
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... ORPHA:173
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Necrotizing Enterocolitis
Hypotension, Shock, Hyponatremia, Bradycardia ORPHA:391673
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Legionnaires Disease
Arrhythmia, Hypotension, Myocarditis, Hyponatremia, Pericarditis ORPHA:549
Hartsfield Syndrome
Hypernatremia OMIM:615465
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Decreased circulating renin ... ORPHA:231625
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Low-to-normal blood pressure, Hyp... OMIM:601678
Whipple Disease
Myocarditis, Hypotension, Myocardial infarction, Hyponatremia, Gastrointestinal hemorrhage, Peric... ORPHA:3452
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... OMIM:255160
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia, Hypertension OMIM:618114
Porphyria Variegata
Abnormal circulating porphyrin concentration, Tachycardia, Hypertension, Hyponatremia ORPHA:79473
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Myocardial ... ORPHA:95409
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Immunodeficiency 82 With Systemic Inflammation
Vasculitis in the skin, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, H... OMIM:619381
Alg8-Cdg
Hyponatremia ORPHA:79325
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy, Hyperkalemia, Hyponatremia ORPHA:361
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Hypocalcemic tetany, Elevated circulati... ORPHA:411634
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Low-to-normal blood pressure, Inc... OMIM:241200
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy, Abnormal ... OMIM:310200
Cirrhotic Cardiomyopathy
Abnormal A-type atrial natriuretic peptide level, Third heart sound, Increased circulating NT-pro... ORPHA:57777
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension, Hyponatremia ORPHA:1764
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level ORPHA:90791
Mirage Syndrome
Intracranial hemorrhage, Hyperkalemia, Hyponatremia OMIM:617053
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Myocardial infarction, Elevated circulating creatinine concentration, Unconjugated h... ORPHA:90038
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Pituitary Apoplexy
Hypotension, Hypertension, Hyponatremia ORPHA:95613
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... ORPHA:3093
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Hepatocellular Carcinoma
Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hypotension, Hypoalbuminemia, Hypercalcemi... ORPHA:88673
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Hyponatremia, Bradycardia ORPHA:91355
Shigellosis
Abnormal blood ion concentration, Hypovolemic shock, Hyponatremia, Myocarditis ORPHA:810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Hyponatremia ORPHA:293978
Familial Hyperaldosteronism Type Iii
Hypokalemia, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epistaxis ORPHA:251274
Acute Intermittent Porphyria
Hypertension, Tachycardia, Hyponatremia ORPHA:79276
Adenohypophysitis
Orthostatic hypotension, Hyponatremia ORPHA:95512
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Hypotension, Shock, Hyponatremia, Hypochloremia, Hyperkalemia ORPHA:90794
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Panhypophysitis
Orthostatic hypotension, Hyponatremia ORPHA:95513
Addison Disease
Orthostatic hypotension, Increased circulating renin level, Hypotension, Hyponatremia, Hyperurice... ORPHA:85138
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... ORPHA:168558
Lysosomal Acid Lipase Deficiency
Hypovolemia, Hypotension, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Pulmonary art... ORPHA:275761
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... ORPHA:289548
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Al Amyloidosis
Abnormal P wave, Jaw claudication, Increased circulating NT-proBNP concentration, Arrhythmia, Abn... ORPHA:85443
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia... ORPHA:167
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Myocarditis, Hyponatremia, Hypertensive crisis, Hypertension, Hyperkalemia ORPHA:544482
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic syncope, Elevated ci... ORPHA:230
Japanese Encephalitis
Hyponatremia ORPHA:79139
Holoprosencephaly
Arrhythmia, Hyponatremia ORPHA:2162
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... ORPHA:480864
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Reduced left ventricular ejecti... ORPHA:268
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carniti... OMIM:219800
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Elevated circulating C-reacti... ORPHA:70591
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... ORPHA:860
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia ORPHA:534
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hyponatremia, Gastrointestinal hemorrhage, Hypertension, Increased serum bil... ORPHA:731
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Abnormal left ventricular function, Hypocalcemia, H... OMIM:619991
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Palpitations, Syncope, Bidirectional ventricular ectopy, Prolonged QTc interval, Pro... OMIM:170390
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia ORPHA:293987
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Absence Of The Pulmonary Artery
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr... ORPHA:980
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Concentric hypertrophic card... OMIM:229310
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy OMIM:601992
Woodhouse-Sakati Syndrome
Hyperlipidemia, Abnormal T-wave OMIM:241080
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy OMIM:302900
African Trypanosomiasis
Arrhythmia, Myocarditis, Third degree atrioventricular block, Second degree atrioventricular bloc... ORPHA:3385
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Woodhouse-Sakati Syndrome
Hyperlipidemia, Abnormal T-wave ORPHA:3464

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 Carf

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 Carf.

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

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MGI Allele Allele Type Produced
Carftm41567(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Carftm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Carftm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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