Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 Rnf2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Luo-Schoch-Yamamoto Syndrome | Short foot, Small hand | OMIM:619460 |
The table below shows human diseases predicted to be associated to Rnf2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Osteomesopyknosis | Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... | ORPHA:2777 | |
Klippel-Feil Syndrome 3, Autosomal Dominant | Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion | OMIM:613702 | |
Acrodysplasia Scoliosis | Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly | ORPHA:2956 | |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome | Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... | ORPHA:1436 | |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B | Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... | OMIM:618469 | |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe | Bifid sternum | OMIM:140850 | |
Luo-Schoch-Yamamoto Syndrome | Short foot, Small hand | OMIM:619460 |
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 Rnf2.
There are 4 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
The E3 ubiquitin ligase RNF216/TRIAD3 is a key coordinator of the hypothalamic-pituitary-gonadal axis. | iScience (May 2022) | Rnf216tm1c(EUCOMM)Wtsi | PMC9126796 |
RNF20 and RNF40 regulate vitamin D receptor-dependent signaling in inflammatory bowel disease. | Cell death and differentiation (June 2021) | Rnf20tm1a(EUCOMM)Wtsi Rnf20tm1c(EUCOMM)Wtsi | PMC8563960 |
RNF20 Functions as a Transcriptional Coactivator for PPARγ by Promoting NCoR1 Degradation in Adipocytes. | Diabetes (October 2019) | Rnf20tm1(KOMP)Vlcg | 31604693 |
RNF216 is essential for spermatogenesis and male fertility†. | Biology of Reproduction (May 2019) | Rnf216tm1b(EUCOMM)Wtsi | 30649198 |
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 |
---|---|---|
Rnf2tm185859(L1L2_gt0_Del_LacZ) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Rnf2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Rnf2tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter