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Gene: Chfr MGI:2444898

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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IMPC Data Collections

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

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.

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
Abnormality of chromosome stability, Leukemia, Neoplasm 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
Abnormality of chromosome stability, Leukemia, Myelodysplasia OMIM:614082
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 54
Chromosome breakage, Lymphoproliferative disorder OMIM:609981
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm OMIM:617883
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents OMIM:610832
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
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Prolonged G2 phase of cell c... OMIM:600901
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Prolonged G2 phase of cell c... OMIM:227650
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma OMIM:613951
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
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Ataxia-Telangiectasia
Abnormality of chromosome stability, Neoplasm ORPHA:100
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Prolonged G2 phase of cell c... OMIM:227645
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage OMIM:617052
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Prolonged G2 phase of cell c... OMIM:227646
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Lig4 Syndrome
Abnormality of chromosome stability, Lymphoma, Acute leukemia ORPHA:99812
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
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 anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat... ORPHA:2495
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-cell ... 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
Abnormality of chromosome stability, Neoplasm, Myelodysplasia ORPHA:84
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130

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

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