Registered for phenotyping at IMPC

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

Gene Summary

Name:
checkpoint with forkhead and ring finger domains
Synonyms:
RNF116,  5730484M20Rik

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 Chfr 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 Chfr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
N Syndrome
Leukemia, Neoplasm, Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Fanconi Anemia, Complementation Group G
Leukemia, Myelodysplasia, Abnormality of chromosome stability OMIM:614082
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Immunodeficiency 54
Chromosome breakage, Lymphoproliferative disorder OMIM:609981
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma OMIM:617883
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Fanconi Anemia, Complementation Group E
Leukemia, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in... OMIM:600901
Fanconi Anemia, Complementation Group A
Leukemia, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in... OMIM:227650
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents OMIM:613951
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin... OMIM:610832
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Squamous cell carcinoma, Leuk... OMIM:210900
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Ataxia-Telangiectasia
Neoplasm, Abnormality of chromosome stability ORPHA:100
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Fanconi Anemia, Complementation Group C
Leukemia, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in... OMIM:227645
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Bone Marrow Failure Syndrome 3
Chromosome breakage, Acute myeloid leukemia OMIM:617052
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Fanconi Anemia, Complementation Group D2
Leukemia, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in... OMIM:227646
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma ORPHA:99812
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Meningioma
Neoplasm of the skin, Neurofibroma, Neoplasm of the anterior pituitary, Spinal meningioma, Neopla... ORPHA:2495
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Nijmegen Breakage Syndrome
Acute leukemia, Abnormality of chromosome stability, Glioma, Lymphoma, Neoplasm, B-cell lymphoma,... ORPHA:647
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability ORPHA:175
Fanconi Anemia
Myelodysplasia, Abnormality of chromosome stability, Neoplasm ORPHA:84

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 Chfr

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 Chfr.

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

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
Chfrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells, Tissue
Chfrtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter