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Gene: Cep120 MGI:2147298

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Gene Summary

Name:
centrosomal protein 120
Synonyms:
Ccdc100

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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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Cep120 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 Cep120 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome With Ocular Defect
Encephalocele, Dextrocardia ORPHA:220493
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Cryptorchidism, Patent ductus arteriosus, Stillbirth OMIM:616300
Joubert Syndrome
Encephalocele, Situs inversus totalis ORPHA:475
Jeune Syndrome
ORPHA:474
Joubert Syndrome 31
OMIM:617761

The table below shows human diseases predicted to be associated to Cep120 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome With Ocular Defect
Encephalocele, Dextrocardia ORPHA:220493
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Cryptorchidism, Patent ductus arteriosus, Stillbirth OMIM:616300
Joubert Syndrome
Encephalocele, Situs inversus totalis ORPHA:475
Jeune Syndrome
ORPHA:474
Joubert Syndrome 31
OMIM:617761

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 Cep120

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 Cep120.

There are 2 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) Cep120tm1b(EUCOMM)Hmgu PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cep120tm1b(EUCOMM)Hmgu PMC6671969

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
Cep120tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Cep120tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cep120tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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