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Genes Phenotypes Help, News, Blog

Gene: Cnep1r1 MGI:1921981

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Gene Summary

Name:
CTD nuclear envelope phosphatase 1 regulatory subunit 1
Synonyms:
5033428A16Rik,  Tmem188

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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
prenatal lethality Cnep1r1em1(IMPC)J HOM   E18.5 0.00
decreased bone mineral content Cnep1r1em1(IMPC)J HET   Early adult 4.38×10-06
decreased bone mineral density Cnep1r1em1(IMPC)J HET Early adult 6.35×10-07
decreased lean body mass Cnep1r1em1(IMPC)J HET   Early adult 9.67×10-05
embryonic lethality prior to tooth bud stage Cnep1r1em1(IMPC)J HOM   E12.5 0.00
preweaning lethality, complete penetrance Cnep1r1em1(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.

PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View images

Human diseases caused by Cnep1r1 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 Cnep1r1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteoporosis
Osteoporosis OMIM:166710
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520

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 Cnep1r1

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 Cnep1r1.

No publications found that use IMPC mice or data for Cnep1r1.

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
Cnep1r1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cnep1r1em1(IMPC)J Exon Deletion Mice
Cnep1r1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cnep1r1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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