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Genes Phenotypes Help, News, Blog

Gene: Rnf2 MGI:1101759

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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:
ring finger protein 2
Synonyms:
dinG,  Ring1B

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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 Rnf2 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 Rnf2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Specific Syndromic Intellectual Disability
Kyphosis, Prominent fingertip pads, Down-sloping shoulders, Scoliosis, Short hallux, Broad hallux... ORPHA:528084
Luo-Schoch-Yamamoto Syndrome
Small hand, Short foot OMIM:619460

The table below shows human diseases predicted to be associated to Rnf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis OMIM:309620
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Non-Specific Syndromic Intellectual Disability
Kyphosis, Prominent fingertip pads, Down-sloping shoulders, Scoliosis, Short hallux, Broad hallux... ORPHA:528084
Luo-Schoch-Yamamoto Syndrome
Small hand, Short foot OMIM:619460

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 Rnf2

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 Rnf2.

There are 3 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 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

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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

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