Gene Summary

Name:
mannan-binding lectin serine peptidase 1
Synonyms:
Crarf

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
preweaning lethality, incomplete penetrance Masp1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased heart rate Masp1tm1.1(KOMP)Vlcg HOM Early adult 6.09×10-05
prolonged RR interval Masp1tm1.1(KOMP)Vlcg HOM Early adult 4.27×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland 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)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus 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)
Trachea 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)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Mesonephros of female N/A heterozygote Ambiguous
N/A Ambiguous
Mesonephros of male N/A heterozygote Ambiguous
N/A Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 50% (1 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

Sleep Wake

Wake state (bmp file)

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Auditory Brain Stem Response

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

5 Images

Human diseases caused by Masp1 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.

The table below shows human diseases associated to Masp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
3Mc Syndrome 1
Conjunctival telangiectasia OMIM:257920
3Mc Syndrome
ORPHA:293843

The table below shows human diseases predicted to be associated to Masp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Arrhythmia, Abnormal left ventricular function, Congestive heart failure,... OMIM:615373
Nathalie Syndrome
Abnormal EKG OMIM:255990
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter OMIM:615770
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Illum Syndrome
Bradycardia OMIM:208155
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Variegate Porphyria
Tachycardia OMIM:176200
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial tachyc... OMIM:614022
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Cardiac arrest, Atrial fibrillation, Supraventricular tachycardia, Atriov... OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Glutamine Deficiency, Congenital
Bradycardia, Neonatal death OMIM:610015
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia OMIM:609286
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:609040
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... OMIM:224700
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block ORPHA:40366
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy OMIM:618775
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication ORPHA:221098
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Encephalitis Lethargica
Bradycardia ORPHA:83600
Neuroleptic Malignant Syndrome
Arrhythmia, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension, Bradycardia, Tach... ORPHA:94093
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Acquired Methemoglobinemia
Syncope, Tachycardia, Arrhythmia, Palpitations ORPHA:464453
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Hypotension, Myocarditis, Bradycardia, Shock ORPHA:319213
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:613426
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Hypotension, Capillary leak, Pericarditis, Bradycardia, ... ORPHA:99826
Yellow Fever
Reduced ejection fraction, Capillary leak, Supraventricular arrhythmia, Hematemesis, Bradycardia,... ORPHA:99829
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy ORPHA:79404
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
3Mc Syndrome 1
Conjunctival telangiectasia OMIM:257920
3Mc Syndrome
ORPHA:293843

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 Masp1

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 Masp1.

No publications found that use IMPC mice or data for Masp1.

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MGI Allele Allele Type Produced
Masp1tm277832(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Masp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Masp1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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