Gene Summary

Name:
nucleoporin 54
Synonyms:
3110079L04Rik,  54kDa

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 Nup54em1(IMPC)Bay HOM   Early adult 0.00
decreased locomotor activity Nup54em1(IMPC)Bay HET   Early adult 7.20×10-05

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.

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

Human diseases caused by Nup54 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 Nup54 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dystonia 37, Early-Onset, With Striatal Lesions
Loss of ambulation, Choreoathetosis, Ataxia OMIM:620427
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Loss of ambulation, Gait disturbance, Ataxia, Choreoathetosis ORPHA:225154

The table below shows human diseases predicted to be associated to Nup54 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Dystonia 37, Early-Onset, With Striatal Lesions
Loss of ambulation, Choreoathetosis, Ataxia OMIM:620427
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Loss of ambulation, Gait disturbance, Ataxia, Choreoathetosis ORPHA:225154

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 Nup54

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 Nup54.

No publications found that use IMPC mice or data for Nup54.

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
Nup54em1(IMPC)Bay Exon Deletion Mice
Nup54tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nup54tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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