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Gene: Plb1 MGI:1922406

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Gene Summary

Name:
phospholipase B1
Synonyms:
4930539A06Rik,  4930433E17Rik,  4632413E21Rik

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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
hyperactivity Plb1em1(IMPC)J HOM Early adult 2.57×10-09
abnormal locomotor behavior Plb1em1(IMPC)J HOM   Early adult 2.32×10-05
increased lean body mass Plb1em1(IMPC)J HOM   Early adult 1.52×10-05
decreased total body fat amount Plb1em1(IMPC)J HOM   Early adult 3.82×10-05

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.

Electroretinography 3

Fundus file

15 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Plb1 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 Plb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria OMIM:618090
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Weight loss, Ataxia, Progressive cerebellar ataxia, Broad-based gait ORPHA:248111
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Polyphagia, Obesity, Broad-based gait ORPHA:411515
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia ORPHA:382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Choreoathetosis, Ataxia OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Small for gestational age, Agitation ORPHA:424
Histidinemia
Hyperactivity ORPHA:2157
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Agitation ORPHA:99819

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 Plb1

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 Plb1.

No publications found that use IMPC mice or data for Plb1.

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MGI Allele Allele Type Produced
Plb1tm42791(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plb1em1(IMPC)J Exon Deletion Mice
Plb1tm42791(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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