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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 liver Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00
hyperactivity Ccdc124tm1b(KOMP)Wtsi HOM Early adult 1.22×10-07
small lung Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00
small heart Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased exploration in new environment Ccdc124tm1b(KOMP)Wtsi HOM Early adult 1.04×10-09
small spleen Ccdc124tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased brain size 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)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperlysinemia, Type I
Cognitive impairment, Short attention span, Hyperactivity, Anemia OMIM:238700
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav... OMIM:252920
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Intellectual Developmental Disorder, Autosomal Dominant 67
Recurrent respiratory infections, Hyperactivity, Compulsive behaviors, Attention deficit hyperact... OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hepatomegaly, Hyperactivity OMIM:615924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Irritability, Pulmonary hypoplasia OMIM:615228
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... ORPHA:98818
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder OMIM:617182
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia ORPHA:89844
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Attention deficit hyperactivi... OMIM:620141
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Agenesis of pulmonary vessels, Hypoplastic left at... OMIM:601186
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetr... OMIM:252930
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Dysphori... OMIM:620242
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetr... OMIM:252900
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Confusion, Aggressive b... ORPHA:247585
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Mitral valve prolapse, Depression, Self... ORPHA:449291
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Aggressive behavior, Mental deterioration, Low frustration tolerance... ORPHA:163681
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia, Dysphagia OMIM:616867
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Tonne-Kalscheuer Syndrome
Aggressive behavior, Abnormal heart morphology, Self-injurious behavior, Pulmonary hypoplasia, Dy... OMIM:300978
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Scimitar Syndrome
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... ORPHA:185
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Parachute mitral va... OMIM:618316
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Pulmonary hypoplasia, Pulmonary sequestration, ... ORPHA:2847
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... OMIM:207800
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology OMIM:263210
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Thrombocytopenia,... OMIM:608013
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Pulmonary hypoplasia OMIM:616733
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Meckel Syndrome, Type 6
Absent gallbladder, Bilobed right lung, Cystic liver disease, Bile duct proliferation, Hepatic fi... OMIM:612284
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A... OMIM:608149
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypopla... ORPHA:1335
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Matthew-Wood Syndrome
Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmona... ORPHA:2470
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... ORPHA:699
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... ORPHA:2257
Mucopolysaccharidosis Type 2
Hepatomegaly, Hyperactivity, Short attention span, Abnormal heart valve morphology, Abnormal pulm... ORPHA:580
Mirage Syndrome
Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Truncus Arteriosus
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... ORPHA:3384
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistul... OMIM:614294
Alg3-Cdg
Cardiomyopathy, Pulmonary hypoplasia, Decreased liver function ORPHA:79321
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Pulmonary hypoplasia, Dysphagia, Patent foramen ovale OMIM:616866
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleur... OMIM:616897
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... OMIM:200995
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... OMIM:617022
Choreoacanthocytosis
Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis OMIM:202650
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... ORPHA:95430
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Atrioventricular canal defect, Pulmonary hypoplasia, Transposition of the great art... OMIM:314390
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Hypoplastic heart OMIM:312150
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... OMIM:611812
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... ORPHA:99050
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... ORPHA:980
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Aggressive behavior, Pulmonary hypoplasia, Pulmonic stenosis, Left ventricular hyp... OMIM:619148
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Hypoplastic heart OMIM:253290
Alg9-Cdg
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal lung lobation, Abnormal h... ORPHA:79328
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... OMIM:613177
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Dysphagia ORPHA:171430
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Single ventricle OMIM:619879
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Pulmonary hypoplasia ORPHA:250999
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Periportal fibrosis, Pulmonar... OMIM:269860
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Prolonged neonatal jaun... OMIM:214100
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Marden-Walker Syndrome
Pulmonary hypoplasia, Dextrocardia OMIM:248700
Caudal Regression Syndrome
Pulmonary hypoplasia, Impulsivity ORPHA:3027
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Diaphanospondylodysostosis
Abnormal liver lobulation, Pulmonary hypoplasia OMIM:608022
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Hypoplastic left ... ORPHA:991
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Mosaic Trisomy 1
Pulmonary artery atresia, Hepatic agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:1692
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... ORPHA:99125
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia, Dysphagia, Lymphopenia OMIM:619708
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Oligomeganephronia
Secundum atrial septal defect, Polydipsia, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Distal Triplication 15Q
Atrial septal defect, Pulmonary hypoplasia, Abnormal heart morphology ORPHA:314588
Czeizel-Losonci Syndrome
Pulmonary hypoplasia, Dextrocardia ORPHA:2437
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Abnormal heart morphology ORPHA:1865
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Pulmonary hypoplasia, Cognitive impairment ORPHA:2990
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Pulmonary hypoplasia ORPHA:1190
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Aggressive behavior, Head-banging, Stereotypical bod... ORPHA:86309
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Atrial se... OMIM:263520
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Splenomegaly, Abnorm... OMIM:270400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Thoracoabdominal Syndrome
Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries OMIM:313850
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Greenberg Dysplasia
Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet... OMIM:215140
Esophageal Atresia
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Pulmonary hypoplasia, Dy... ORPHA:1199
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Abnormality of the gallbladder, Abnormal lung lobation, Self-injurious... ORPHA:818
Fryns Syndrome
Abnormal cardiac septum morphology, Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:2059
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary window, Pulmonary artery hypoplasia, Pulm... OMIM:620025
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Tetrasomy 9P
Absent gallbladder, Pericarditis, Hyperactivity, Dextrocardia, Jaundice, Biliary atresia, Abnorma... ORPHA:3310
Mosaic Trisomy 16
Ventricular septal defect, Abnormal lung morphology, Abnormal heart morphology, Pulmonary hypopla... ORPHA:1708
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia OMIM:151210
Joubert Syndrome 21
Splenomegaly, Pulmonary hypoplasia, Dysphagia OMIM:615636
Meier-Gorlin Syndrome 7
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary hypoplasia, Atrial s... OMIM:617063
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Abnormal card... OMIM:249000
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Complete atrioventricular canal defect, Tetralogy of Fallot, Pulmonary hypopl... OMIM:617925
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Abnormal heart valve morphology, Pulmonary hypoplasia ORPHA:90652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Pulmonary hypoplasia OMIM:614080
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Dysphagia OMIM:601559
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Pulmonary hypoplasia, Polysplenia, Chylotho... OMIM:229850
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia, Extramedullary hematopoiesis ORPHA:2886
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces, Mitral valve prolapse ORPHA:536467
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Perimembranous ventricular septal de... ORPHA:83617
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia OMIM:251230
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal defect, A... ORPHA:536471
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Pulmonary hypoplasia, Single ventricle OMIM:308050
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Achondrogenesis, Type Ia
Pulmonary hypoplasia OMIM:200600
Schinzel-Giedion Syndrome
Myeloid leukemia, Recurrent pneumonia, Abnormal heart morphology, Pulmonary hypoplasia, Dysphagia... ORPHA:798
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Hepatos... 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
Atrial septal defect, Bicuspid aortic valve, Pneumothorax, Abnormal heart morphology, Pulmonary h... OMIM:612289
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Osteogenesis Imperfecta
Abnormal endocardium morphology, Mitral valve prolapse, Pulmonary hypoplasia, Dysphagia, Thromboc... ORPHA:666
Fraser Syndrome 1
Abnormal thymus morphology, Pulmonary hypoplasia, Abnormal heart morphology OMIM:219000
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:2753
Penile Agenesis
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:49
Restrictive Dermopathy
Atrial septal defect, Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries ORPHA:1662
Neu-Laxova Syndrome 1
Ventricular septal defect, Pulmonary hypoplasia, Patent foramen ovale, Transposition of the great... 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
Congenital hepatic fibrosis, Pulmonary hypoplasia ORPHA:93271
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Microphthalmia, Syndromic 1
Pulmonary hypoplasia, Bicuspid aortic valve, Self-mutilation, Aggressive behavior OMIM:309800
Pallister-Killian Syndrome
Ventricular septal defect, Aortic valve stenosis, Pulmonary hypoplasia, Atrial septal defect, Hyp... OMIM:601803
Craniofacial Microsomia 1
Tetralogy of Fallot, Ventricular septal defect, Pulmonary hypoplasia 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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