Gene Summary

Name:
ring finger protein 7
Synonyms:
Sag,  Rbx2

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal response to tactile stimuli Rnf7tm1a(EUCOMM)Wtsi HET Early adult 2.25×10-06
decreased circulating triglyceride level Rnf7tm1a(EUCOMM)Wtsi HET Early adult 1.04×10-05
abnormal gait Rnf7tm1a(EUCOMM)Wtsi HET   Early adult 3.34×10-06
preweaning lethality, complete penetrance Rnf7tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating chloride level Rnf7tm1a(EUCOMM)Wtsi HET Early adult 2.25×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Rnf7 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 Rnf7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:601678
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati... ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:241200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia ORPHA:90794
Fanconi Anemia, Complementation Group D2
Short stature, Prolonged G2 phase of cell cycle, Patent ductus arteriosus, Abnormal heart morphology OMIM:227646
Fanconi Anemia, Complementation Group C
Short stature, Prolonged G2 phase of cell cycle, Intrauterine growth retardation, Ventricular sep... OMIM:227645
Fanconi Anemia, Complementation Group E
Short stature, Prolonged G2 phase of cell cycle, Abnormal heart morphology OMIM:600901
Fanconi Anemia, Complementation Group A
Short stature, Prolonged G2 phase of cell cycle, Abnormal heart morphology OMIM:227650

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 Rnf7

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 Rnf7.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CRL5-dependent regulation of the small GTPases ARL4C and ARF6 controls hippocampal morphogenesis. Proceedings of the National Academy of Sciences of the United States of America (September 2020) Rnf7tm1c(EUCOMM)Wtsi 32873638
Comparative Analysis of cul5 and rbx2 Expression in the Developing and Adult Murine Brain and Their Essentiality During Mouse Embryogenesis. Developmental dynamics : an official publication of the American Association of Anatomists (November 2018) Rnf7tm1a(EUCOMM)Wtsi 30269386
RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion. Development (Cambridge, England) (February 2018) Rnf7tm1c(EUCOMM)Wtsi 29361558
Rbx2 regulates neuronal migration through different cullin 5-RING ligase adaptors. Developmental cell (November 2013) Rnf7tm1c(EUCOMM)Wtsi Rnf7tm1a(EUCOMM)Wtsi PMC3851519

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
Rnf7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rnf7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rnf7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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