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Gene: Ccdc160 MGI:3588225

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Gene Summary

Name:
coiled-coil domain containing 160
Synonyms:
6330534C20Rik

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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.

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Legacy Phenotype Associated Images
Ccdc160tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 85 images

Ccdc160tm1a(EUCOMM)Wtsi
cornea/lens fusion, HEMI, Male, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
mydriasis, HOM, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
left eye, HOM, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
abnormal placement of pupils, abnormal pupil morphology, HOM, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
abnormal pupil morphology, HOM, Female, WTSI

View all 6 images

Ccdc160tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Ccdc160tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Ccdc160 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 Ccdc160 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Wildervanck Syndrome
Meningocele ORPHA:3456
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Humero-Radial Synostosis
Meningocele ORPHA:3265
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly OMIM:603194
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Triploidy
Abnormal cardiac septum morphology, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly ORPHA:1393
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect OMIM:614424
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Anomalous pulmonary venous return ORPHA:2311
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningocele, Patent ductus arter... OMIM:130720
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Patent du... ORPHA:99776
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart ORPHA:991
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial septal defect ORPHA:3380
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... ORPHA:508498
Nail-Patella Syndrome
Spina bifida OMIM:161200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida OMIM:619480
Lathosterolosis
Meningocele ORPHA:46059
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Hydrocephalus, Meni... ORPHA:567
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septal defect, Atrioven... OMIM:274000
Fanconi Anemia
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnorm... ORPHA:84
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Spina bifida ORPHA:2308
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Short umbilical cord, Small pl... OMIM:256520
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Campomelic Dysplasia
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism OMIM:114290
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Mitral valve prolapse, Perimem... OMIM:180849
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Aicardi Syndrome
Spina bifida OMIM:304050
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Arima Syndrome
Occipital meningocele OMIM:243910
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Umbilical hernia, Hydrocephalus, Spina bifida OMIM:304120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820

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 Ccdc160

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 Ccdc160.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ccdc160tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ccdc160tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ccdc160tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ccdc160tm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ccdc160tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ccdc160tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ccdc160tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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