banner
Genes Phenotypes Help, News, Blog

Gene: Pex5l MGI:1916672

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
peroxisomal biogenesis factor 5-like
Synonyms:
Pex2,  PXR2,  1700016J08Rik,  TRIP8b

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Pex5l 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 Pex5l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T... OMIM:608643
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Irritability OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability OMIM:616881
Tay-Sachs Disease
Depression, Memory impairment, Laryngeal dystonia, Short attention span, Tremor, Exaggerated star... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Dysgyria, Tremor, Exaggerated startle response OMIM:620327
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Short attention span, Exaggerated startle response ORPHA:438216
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Exaggerated startle response, Pachygyria, Agyria, Lissence... OMIM:253800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Asparagine Synthetase Deficiency
Tremor, Simplified gyral pattern, Exaggerated startle response, Irritability OMIM:615574
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Cognitive impairment, Exaggerated startle response OMIM:617527
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Dystonia, Exaggerated startle response ORPHA:521426
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response, Irritability OMIM:620423
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Irritability OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213

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 Pex5l

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 Pex5l.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TRIP8b is required for maximal expression of HCN1 in the mouse retina. PloS one (January 2014) Pex5ltm1(KOMP)Vlcg PMC3883711
Regulation of axonal HCN1 trafficking in perforant path involves expression of specific TRIP8b isoforms. PloS one (February 2012) Pex5ltm1(KOMP)Vlcg PMC3283722
TRIP8b splice forms act in concert to regulate the localization and expression of HCN1 channels in CA1 pyramidal neurons. Neuron (May 2011) Pex5ltm1(KOMP)Vlcg PMC3107038

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
Pex5ltm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pex5ltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pex5ltm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, 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