Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
PILR alpha associated neural protein
Synonyms:
C530028O21Rik

IMPC Data Collections

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

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.

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 Pianp 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 Pianp by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Abnormal fear-induced behavior ORPHA:309246
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Choreoacanthocytosis
Self-injurious behavior, Impaired vibratory sensation, Phonic tics, Depression, Head-banging, Lat... ORPHA:2388
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Cerebellar vermis hypoplasia, Self-injurious behavior, Fixated interests, Emo... OMIM:620330
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Monosomy 22Q13.3
Impaired pain sensation, Bruxism, Hair-pulling, Agenesis of corpus callosum, Hyperactivity, Cereb... ORPHA:48652
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Chiari malformation, Abnormal fear-induced behavior, Emotional lability,... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Chiari malformation, Abnormal fear-induced behavior, Abnormal lateral ve... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Chiari malformation, Abnormal fear-induced behavior, Abnormal lateral ve... ORPHA:353284
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568

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 Pianp

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 Pianp.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Pianp deficiency links GABAB receptor signaling and hippocampal and cerebellar neuronal cell composition to autism-like behavior. Molecular psychiatry (September 2019) Pianptm1a(KOMP)Wtsi 31511635

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
Pianptm115408(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pianptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pianptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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