Gene: Tsen54 MGI:1923515

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Gene Summary

Name:
tRNA splicing endonuclease subunit 54
Synonyms:
0610034P02Rik

IMPC Data Collections

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
preweaning lethality, complete penetrance Tsen54em1(IMPC)J HOM   Early adult 0.00
increased grip strength Tsen54em1(IMPC)J HET Early adult 7.00×10-07
embryonic lethality prior to organogenesis Tsen54em1(IMPC)J HOM   E9.5 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.

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

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

8 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 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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

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