Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
COP9 signalosome subunit 5
Synonyms:
Jab1,  COP9 complex S5,  JUN activation binding protein,  Sgn5,  CSN5

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Cops5 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 Cops5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... OMIM:609054
Nijmegen Breakage Syndrome-Like Disorder
Growth delay, Chromosomal breakage induced by ionizing radiation, Short stature OMIM:613078
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents OMIM:605724
Immunodeficiency 54
Postnatal growth retardation, Intrauterine growth retardation, Chromosome breakage, Short stature OMIM:609981
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchang... OMIM:618097
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group O
Neonatal death, Chromosome breakage, Short stature OMIM:613390
Radial-Renal Syndrome
Chromosome breakage, Short stature OMIM:179280
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group T
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:616435
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group U
Growth delay, Chromosome breakage, Patent ductus arteriosus OMIM:617247
Fanconi Anemia, Complementation Group G
Growth delay, Abnormality of chromosome stability OMIM:614082
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Defective DNA repair af... OMIM:278760
Fanconi Anemia, Complementation Group V
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:617243
Fanconi Anemia, Complementation Group Q
Growth delay, Chromosome breakage, Short stature OMIM:615272
Fanconi Anemia, Complementation Group S
Chromosome breakage, Short stature OMIM:617883
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
N Syndrome
Abnormality of chromosome stability OMIM:310465
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents OMIM:609053
Dyskeratosis Congenita, Autosomal Recessive 8
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:620133
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:610832
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Patent ductus arteriosus, Short stature, Chromosomal breakage in... OMIM:603467
Fanconi Anemia, Complementation Group R
Growth delay, Chromosomal breakage induced by crosslinking agents OMIM:617244
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Growth de... OMIM:210900
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Bone Marrow Failure Syndrome 3
Intrauterine growth retardation, Chromosome breakage, Short stature OMIM:617052
Ataxia-Telangiectasia
Abnormality of chromosome stability, Short stature, Delayed puberty ORPHA:100
Fanconi Anemia, Complementation Group P
Growth delay, Short stature, Chromosomal breakage induced by crosslinking agents OMIM:613951
Fanconi Anemia, Complementation Group L
Growth delay, Intrauterine growth retardation, Chromosome breakage, Chromosomal breakage induced ... OMIM:614083
Icf Syndrome
Umbilical hernia, Abnormality of chromosome stability, Short stature ORPHA:2268
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Intrauterine growth retardation, Short... OMIM:227645
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Chromosomal breakage in... OMIM:600901
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Intrauterine growth retardation, Abnormality of chromosome stability, G... OMIM:300514
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Chromosomal breakage in... OMIM:227650
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus, Short statur... OMIM:227646
Trichothiodystrophy
Umbilical hernia, Defective DNA repair after ultraviolet radiation damage, Intrauterine growth re... ORPHA:33364
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Xfe Progeroid Syndrome
Severe short stature, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
De Sanctis-Cacchione Syndrome
Severe short stature, Defective DNA repair after ultraviolet radiation damage OMIM:278800
Lig4 Syndrome
Growth delay, Abnormality of chromosome stability ORPHA:99812
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation, Short stature ORPHA:420741
Revesz Syndrome
Intrauterine growth retardation, Abnormality of chromosome stability OMIM:268130
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Rhizomelia, Disproportionate short-limb short stature, Spina... ORPHA:175
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Fanconi Anemia
Abnormality of chromosome stability, Short stature, Spina bifida, Patent ductus arteriosus, Growt... ORPHA:84
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Short stature ORPHA:647

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 Cops5

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 Cops5.

No publications found that use IMPC mice or data for Cops5.

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
Cops5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cops5tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cops5em1(IMPC)Ccpcz Exon Deletion Mice
Cops5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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