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Gene: Ccdc124 MGI:1916403

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Gene Summary

Name:
coiled-coil domain containing 124
Synonyms:
1810023B24Rik

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
small lung Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00
hyperactivity Ccdc124tm1b(KOMP)Wtsi HOM Early adult 1.22×10-07
decreased exploration in new environment Ccdc124tm1b(KOMP)Wtsi HOM Early adult 1.04×10-09
small heart Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased brain size Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00
small spleen Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00
small liver Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ccdc124 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 Ccdc124 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Ab... ORPHA:3032
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Hepatomegaly, Truncus arteriosus, Cholestasis, Hy... OMIM:615415
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity disorder, Recurr... OMIM:619927
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Progressive neurologic ... OMIM:252920
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly, Mental deterioration OMIM:615924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Irritability, Pulmonary hypoplasia OMIM:615228
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Landau-Kleffner Syndrome
Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention span, Impulsivi... ORPHA:98818
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Patent foramen ovale OMIM:617182
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... OMIM:619827
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, C... OMIM:208540
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia ORPHA:89844
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Self-mutilation, Aggre... OMIM:615516
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral lung agenesis, Hypoplastic left atrium, Truncus arteriosus, Pulm... OMIM:601186
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor stereotypy, Attent... OMIM:620141
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Dysphagia, Recurrent up... OMIM:252930
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia, Dysphagia OMIM:616867
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Atrial septal defect, Tricuspid atresia, Dextrocardia, Pulmonary... ORPHA:185
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Depression, Short attention span, Secundum atrial septal defect, Dysphoria, Motor ... OMIM:620242
Citrullinemia Type Ii
Irritability, Hepatomegaly, Pancreatitis, Abnormal eating behavior, Elevated circulating hepatic ... ORPHA:247585
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Pulmonary hypoplasia, Dysphagia, Self-injurious behavior, Aggressive b... OMIM:300978
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Recurrent upper respira... OMIM:252900
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Parachute mitral valve, Mesenteric cyst, Patent foramen ovale, Pulmonary ar... OMIM:618316
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Abnormal heart morphology, Pulmonary hypoplasia, Tetralogy of Fallot, Mi... ORPHA:2847
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Short... ORPHA:449291
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Low frustration tolerance, Stereotypical h... ORPHA:163681
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Pulmonary hypoplasia, Periportal fibrosis OMIM:263210
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Cardiomegaly, Pulmonary hypoplasia, Splenomegaly, Dysphagia, Hepatosplenome... OMIM:608013
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Left ventricular hypertrophy OMIM:616733
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Argininemia
Anorexia, Irritability, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Hyp... OMIM:207800
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cholestasis, Biliary hyperplasia, Cognitive impairment, Splenomegaly, Abnormal intrah... ORPHA:731
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Portal hypertension, Pulmonary hypoplasia, Splenomegaly, Hepat... OMIM:263200
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Secundum atrial septal defect, Pulmonary hypoplasia, Recurrent respir... ORPHA:2257
Meckel Syndrome, Type 6
Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease, Absent gallbladder, Hepatic ... OMIM:612284
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonic stenosis, Pulmonary hypoplasia, Splenomegaly, Atrial septal defect, Ventri... OMIM:608149
Meacham Syndrome
Transposition of the great arteries, Cardiac total anomalous pulmonary venous connection, Dextroc... OMIM:608978
Pentalogy Of Cantrell
Abnormal pericardium morphology, Pulmonary hypoplasia, Tetralogy of Fallot, Absent gallbladder, A... ORPHA:1335
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m... ORPHA:2470
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Transposition of the great arteries, Abnormal heart valv... ORPHA:3384
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Cardiomyopathy, Secundum atrial septal defect, Pulmonary hypoplasia, Dysphagia OMIM:616866
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly, Ventricular se... OMIM:616897
Alg3-Cdg
Decreased liver function, Cardiomyopathy, Pulmonary hypoplasia ORPHA:79321
Cardiac-Urogenital Syndrome
Atrial septal defect, Mesocardia, Dextrocardia, Accessory spleen, Scimitar anomaly, Coronary sinu... OMIM:618280
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:139466
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Pearson Syndrome
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Card... ORPHA:699
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Extrapulmonary lobar sequestration, Pulmonary hypoplasia, Hepatic fibrosis, Pancrea... OMIM:200995
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Hepatomegaly, Abnormal tricuspid valve morphology, Hyperactivity, Abnor... ORPHA:580
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Mirage Syndrome
Anemia, Aspiration pneumonia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia OMIM:617053
Congenital Tracheomalacia
Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Ventricular septal defect, Bronchiectasi... ORPHA:95430
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, Ventricular septa... OMIM:617022
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Pulmonary hypoplasia, Hepatic steatosis OMIM:231680
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Hyperactivity, Coronary artery fistula, Attention deficit hypera... OMIM:614294
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Anomalous origin of left pulmonary artery from ascending aorta, Transpositi... ORPHA:99050
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Pulmonary hypoplasia, Dextroc... OMIM:314390
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Absence Of The Pulmonary Artery
Pulmonary edema, Atrial septal defect, Cardiomegaly, Patent foramen ovale, Truncus arteriosus, Re... ORPHA:980
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Pulmonic stenosis, Pulmonary hypoplasia, Left ventricular hypertrophy, Aggressive ... OMIM:619148
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Accessory spleen, Patent foramen ovale, Hypoplasia of the thymus, Recurre... OMIM:613177
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Alg9-Cdg
Abnormal lung lobation, Irritability, Atrial septal defect, Hepatomegaly, Periportal fibrosis, Ab... ORPHA:79328
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Single ventricle OMIM:619879
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Dysphagia ORPHA:171430
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Hyposegmentation of neutrophil nuclei ORPHA:250999
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Hepatic fibrosis, Polycystic liver disease, Bile duct proliferation, Pulmonary hypoplas... OMIM:208500
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Pulmonary hypoplasia,... OMIM:214100
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Periportal fibrosis, Patent foramen ovale, Pulmonary hypoplasia, Splen... OMIM:269860
Diaphanospondylodysostosis
Pulmonary hypoplasia, Abnormal liver lobulation OMIM:608022
Marden-Walker Syndrome
Pulmonary hypoplasia, Dextrocardia OMIM:248700
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Caudal Regression Syndrome
Pulmonary hypoplasia, Impulsivity ORPHA:3027
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Ogden Syndrome
Left atrial enlargement, Dysphagia, Cardiomegaly, Bicuspid aortic valve, Irritability, Perimembra... OMIM:300855
Pagod Syndrome
Situs inversus totalis, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Abnormality of the spl... ORPHA:991
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial septal defect, Hepatomegaly, Tra... ORPHA:99125
Mosaic Trisomy 1
Pulmonary hypoplasia, Hepatic agenesis, Ventricular septal defect, Pulmonary artery atresia ORPHA:1692
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Dysphagia, Lymphopenia, Bronchiectasis, Interstitial emphysema OMIM:619708
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Distal Triplication 15Q
Atrial septal defect, Abnormal heart morphology, Pulmonary hypoplasia ORPHA:314588
Oligomeganephronia
Polydipsia, Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Czeizel-Losonci Syndrome
Pulmonary hypoplasia, Dextrocardia ORPHA:2437
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Pancreatitis, Splenic cyst, Patent foramen ovale, Pulmonary artery atresia, Hepatic ... OMIM:620371
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Pulmonary hypoplasia ORPHA:1865
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Pulmonary hypoplasia, Cognitive impairment ORPHA:2990
Atelosteogenesis Type I
Pulmonary hypoplasia, Abnormal pancreatic duct morphology ORPHA:1190
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Dpagt1-Cdg
Emotional blunting, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration... ORPHA:86309
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Distal Deletion 15Q
Bicuspid aortic valve, Hypoplastic left heart, Double outlet right ventricle with doubly committe... ORPHA:1596
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Atrial septal defect, Ventricular se... OMIM:263520
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Hyperactivity, Hypert... OMIM:270400
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Hepatomegaly, Pleural effusion OMIM:620369
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Pulmonary hypoplasia OMIM:313850
Esophageal Atresia
Recurrent respiratory infections, Bronchitis, Pulmonary hypoplasia, Dysphagia, Tetralogy of Fallo... ORPHA:1199
Greenberg Dysplasia
Abnormal lung lobation, Hepatomegaly, Hepatic calcification, Bone marrow hypocellularity, Pulmona... OMIM:215140
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Abnormality of the gallbladder, Atrioventricular canal defect, Pulmonary ... ORPHA:818
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Fryns Syndrome
Pulmonary hypoplasia, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:2059
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia OMIM:151210
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Ventricul... OMIM:620025
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Mosaic Trisomy 16
Abnormal lung morphology, Abnormal heart morphology, Pulmonary hypoplasia, Atrial septal defect, ... ORPHA:1708
Tetrasomy 9P
Inappropriate behavior, Jaundice, Dextrocardia, Biliary atresia, Hyperactivity, Patent foramen ov... ORPHA:3310
Joubert Syndrome 21
Splenomegaly, Pulmonary hypoplasia, Dysphagia OMIM:615636
Meier-Gorlin Syndrome 7
Meconium peritonitis, Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect, Comp... OMIM:617063
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Meckel Syndrome, Type 1
Accessory spleen, Asplenia, Bile duct proliferation, Pulmonary hypoplasia, Splenomegaly, Malforma... OMIM:249000
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Pulmonary hypoplasia OMIM:614080
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Pulmonary arterial medial hypertrophy, Dysphagia OMIM:601559
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Pulmonary hypoplasia, Complete atrioventricular canal defect, Tetralogy of Fa... OMIM:617925
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Pulmonary hypoplasia, Abnormal cardiac septum morphology ORPHA:90652
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Atelectasis, Mitral valve prolapse, Repeated pneumothoraces ORPHA:536467
Fryns Syndrome
Chylothorax, Pulmonary hypoplasia, Ectopic pancreatic tissue, Atrial septal defect, Ventricular s... OMIM:229850
Tarp Syndrome
Atrial septal defect, Extramedullary hematopoiesis, Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:2886
Congenital Myopathy 17
Pulmonary hypoplasia, Respiratory tract infection OMIM:618975
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancre... ORPHA:83617
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia OMIM:251230
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Aortic valve stenosis, Pulmonary hypoplasia, ... ORPHA:536471
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Pulmonary hypoplasia, Single ventricle, Abnormal cardiac septum morphology OMIM:308050
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Achondrogenesis, Type Ia
Pulmonary hypoplasia OMIM:200600
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Schinzel-Giedion Syndrome
Annular pancreas, Recurrent pneumonia, Pulmonary hypoplasia, Dysphagia, Abnormal heart morphology... ORPHA:798
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia, Peritonitis OMIM:619351
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Tetraamelia Syndrome 1
Asplenia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Pulmonary hypoplasia, Hepat... ORPHA:96334
Raine Syndrome
Pulmonary hypoplasia OMIM:259775
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:616300
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia OMIM:265000
Fontaine Progeroid Syndrome
Pneumothorax, Abnormal heart morphology, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Le... OMIM:612289
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Osteogenesis Imperfecta
Abnormal endocardium morphology, Thrombocytopenia, Pulmonary hypoplasia, Dysphagia, Mitral valve ... ORPHA:666
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:2753
Fraser Syndrome 1
Abnormal heart morphology, Pulmonary hypoplasia, Abnormal thymus morphology OMIM:219000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:49
Restrictive Dermopathy
Atrial septal defect, Transposition of the great arteries, Pulmonary hypoplasia, Dextrocardia ORPHA:1662
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent foramen ovale, Transposition of the great arteries, Pulmonary h... OMIM:256520
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Restrictive Dermopathy 1
Atrial septal defect, Pulmonary hypoplasia OMIM:275210
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Dysphagia OMIM:606170
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Fetal Akinesia Deformation Sequence 1
Pulmonary hypoplasia OMIM:208150
Fraser Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia, Congenital hepatic fibrosis ORPHA:93271
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonary hypoplasia, Atrial septal defect, V... OMIM:601803
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Pulmonary hypoplasia, Self-mutilation, Aggressive behavior OMIM:309800
Craniofacial Microsomia 1
Ventricular septal defect, Pulmonary hypoplasia, Tetralogy of Fallot OMIM:164210

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 Ccdc124

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 Ccdc124.

No publications found that use IMPC mice or data for Ccdc124.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ccdc124tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ccdc124tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ccdc124tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Ccdc124tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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