banner
Genes Phenotypes Help, News, Blog

Gene: Tsen54 MGI:1923515

Log in to follow

Gene Summary

Name:
tRNA splicing endonuclease subunit 54
Synonyms:
0610034P02Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Tsen54em1(IMPC)J HET Early adult 2.18×10-07
embryonic lethality prior to organogenesis Tsen54em1(IMPC)J HOM   E9.5 0.00
preweaning lethality, complete penetrance Tsen54em1(IMPC)J HOM   Early adult 0.00

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images
X-ray

XRay Images Forepaw

12 Images

View images
Electroretinography 3

Fundus file

6 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images
X-ray

XRay Images Skull Lateral Orientation

12 Images

View images
PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Tsen54 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 Tsen54 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pontocerebellar Hypoplasia Type 2
ORPHA:2524
Pontocerebellar Hypoplasia, Type 4
OMIM:225753
Pontocerebellar Hypoplasia, Type 2A
OMIM:277470
Pontocerebellar Hypoplasia, Type 5
OMIM:610204
Pontocerebellar Hypoplasia Type 4
ORPHA:166063

The table below shows human diseases predicted to be associated to Tsen54 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pontocerebellar Hypoplasia Type 2
ORPHA:2524
Pontocerebellar Hypoplasia, Type 4
OMIM:225753
Pontocerebellar Hypoplasia, Type 2A
OMIM:277470
Pontocerebellar Hypoplasia, Type 5
OMIM:610204
Pontocerebellar Hypoplasia Type 4
ORPHA:166063

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 Tsen54

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 Tsen54.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Three-Dimensional X-ray Imaging of β-Galactosidase Reporter Activity by Micro-CT: Implication for Quantitative Analysis of Gene Expression. Brain sciences (June 2021) Tsen54tm1a(EUCOMM)Wtsi PMC8230009
Three-dimensional microCT imaging of murine embryonic development from immediate post-implantation to organogenesis: application for phenotyping analysis of early embryonic lethality in mutant animals. Mammalian genome : official journal of the International Mammalian Genome Society (November 2017) Tsen54tm1a(EUCOMM)Wtsi 29170794

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
Tsen54em1(IMPC)J Exon Deletion Mice
Tsen54tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tsen54tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tsen54tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tsen54tm1e(EUCOMM)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