Gene Summary

Name:
protocadherin 20
Synonyms:
PCDH13,  C630015B17Rik

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
decreased anxiety-related response Pcdh20em1(IMPC)H HOM Late adult 6.57×10-05
head bobbing Pcdh20em1(IMPC)H HOM Early adult 7.19×10-05
abnormal behavior Pcdh20em1(IMPC)H HOM Late adult 5.14×10-05
decreased thigmotaxis Pcdh20em1(IMPC)H HOM Late adult 5.14×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Echo

M-Mode Images

72 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Human diseases caused by Pcdh20 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 Pcdh20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Abnormal head movements, Hyperactivity ORPHA:382
Primary Dystonia, Dyt13 Type
Motor stereotypy, Jerky head movements ORPHA:98807
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements ORPHA:71518
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Fragile X Syndrome
Recurrent hand flapping, Abnormal head movements, Hyperactivity, Self-biting OMIM:300624
Episodic Ataxia Type 4
Abnormal head movements ORPHA:79136
Autosomal Dominant Spastic Ataxia Type 1
Dysphagia, Jerky head movements ORPHA:251282
Epilepsy With Eyelid Myoclonia
Abnormal head movements ORPHA:139431
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Jerky head movements ORPHA:240103
Huntington Disease-Like 1
Restlessness, Abnormal head movements, Jerky head movements ORPHA:157941
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Jerky head movements ORPHA:64280
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements ORPHA:247815
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Ogden Syndrome
Abnormal head movements ORPHA:276432
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements ORPHA:369837
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277

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 Pcdh20

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 Pcdh20.

No publications found that use IMPC mice or data for Pcdh20.

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
Pcdh20em1(IMPC)H Indel Mice
Pcdh20tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pcdh20tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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