Prx MGI Mouse Gene Detail - MGI:108176

Symbol

Prx
Name

periaxin
Synonyms

L-Periaxin

Feature Type

protein coding gene
IDs

MGI:108176
NCBI Gene: 19153
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr7:27198730-27219466 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 15.91 cM
Mapping Data

4 experiments

SNPs within 2kb

572 from dbSNP Build 142
Strain Annotations

18
PCR

1
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_108176	protein coding gene	Chr7:27196813-27219639 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031914	protein coding gene	Chr7:26159407-26181744 (+)
A/J	MGP_AJ_G0031893	protein coding gene	Chr7:25523419-25548142 (+)
AKR/J	MGP_AKRJ_G0031823	protein coding gene	Chr7:26207123-26228751 (+)
BALB/cJ	MGP_BALBcJ_G0031898	protein coding gene	Chr7:25741498-25763139 (+)
C3H/HeJ	MGP_C3HHeJ_G0031620	protein coding gene	Chr7:26582512-26607040 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032363	protein coding gene	Chr7:27017455-27044671 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029415	protein coding gene	Chr7:26759188-26773434 (+)
CAST/EiJ	MGP_CASTEiJ_G0030955	protein coding gene	Chr7:19891965-19913895 (+)
CBA/J	MGP_CBAJ_G0031585	protein coding gene	Chr7:28212817-28240184 (+)
DBA/2J	MGP_DBA2J_G0031737	protein coding gene	Chr7:25328040-25343054 (+)
FVB/NJ	MGP_FVBNJ_G0031693	protein coding gene	Chr7:25425937-25447386 (+)
LP/J	MGP_LPJ_G0031817	protein coding gene	Chr7:26489494-26510202 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031728	protein coding gene	Chr7:27785221-27810076 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032394	protein coding gene	Chr7:25742669-25768308 (+)
PWK/PhJ	MGP_PWKPhJ_G0030679	protein coding gene	Chr7:20358446-20379573 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030513	protein coding gene	Chr7:16731705-16752661 (+)
WSB/EiJ	MGP_WSBEiJ_G0031063	protein coding gene	Chr7:26034443-26052804 (+)

Human Ortholog

PRX, periaxin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PRX, periaxin
Synonyms

CMT4F
Links

HGNC:13797

NCBI Gene ID: 57716

neXtProt AC: NX_Q9BXM0

UniProt: Q9BXM0
Chr Location

19q13.2; chr19:40393764-40414793 (-) GRCh38

MGI Vertebrate Homology

Prx stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PRX
Gene Tree

Prx

Diseases

2 with human PRX associations

				Human Disease	Mouse Models
				Charcot-Marie-Tooth disease type 3 IDs Charcot-Marie-Tooth disease type 3 DOID:0050540 OMIM:145900
				Charcot-Marie-Tooth disease type 4F IDs Charcot-Marie-Tooth disease type 4F DOID:0110193 ICD10CM:G60.0 OMIM:614895 ORDO:99952

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

22 phenotypes from 4 alleles in 5 genetic backgrounds
16 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

31
Endonuclease-mediated

1
Gene trapped

26
Targeted

3
Transgenic

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

45 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age.

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All GO Annotations

18
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

715
Tissues

5
cDNA Data

22
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase prx

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All Sequences

54
RefSeq

6
UniProt

6
CCDS

CCDS21023.1, CCDS39849.1

Ensembl

ENSMUSG00000053198 (Evidence)
NCBI Gene

19153

			Length	Strain/Species	Flank
genomic	19153	NCBI Gene Model \| MGI Sequence Detail	20737	C57BL/6J	± kb
transcript	NM_019412	RefSeq \| MGI Sequence Detail	5260	ZRU/MplStud
polypeptide	O55103	UniProt \| EBI \| MGI Sequence Detail	1391	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000013336 periaxin

(term hierarchy)
InterPro Domains

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR052082 Peripheral myelin sheath structural protein

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All nucleic 26

cDNA 24

Primer pair 2

Microarray probesets 4

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MGD-MRK-37215

Summaries

All 50

Developmental Gene Expression 8

Gene Ontology 8

Phenotypes 16
Earliest

J:31213 Scherer SS, et al., Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development. 1995 Dec;121(12):4265-73
Latest

J:332131 Perera SN, et al., Insights into olfactory ensheathing cell development from a laser-microdissection and transcriptome-profiling approach. Glia. 2020 Dec;68(12):2550-2584

TSS for Prx:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr65283	Chr7:27196760-27196771 (+)	-1,964 bp
Tssr65284	Chr7:27198740-27198756 (+)	18 bp
Tssr65285	Chr7:27207265-27207285 (+)	8,545 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24