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Gene: Pirt MGI:2443635

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phosphoinositide-interacting regulator of transient receptor potential channels
Synonyms:
Pirt,  A530088H08Rik

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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 Pirt 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 Pirt by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology ORPHA:369873
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Decreased distal sensory nerve action potential, Abnormal autonomic nervous... OMIM:614575
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Multiple System Atrophy
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:102
Riboflavin Transporter Deficiency
Optic disc pallor, Abnormal autonomic nervous system physiology, Facial palsy, Abnormal cranial n... ORPHA:97229
Multiple System Atrophy, Parkinsonian Type
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:98933
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Multiple System Atrophy, Cerebellar Type
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:227510
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... ORPHA:330001
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology ORPHA:168593
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Erythermalgia, Primary
Abnormal autonomic nervous system physiology OMIM:133020
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Abnormal autonomic nervous system physiology, Abnormal cranial ... ORPHA:247234
Melkersson-Rosenthal Syndrome
Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Tetanus
Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:3299
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:97355
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Romano-Ward Syndrome
Abnormal autonomic nervous system physiology ORPHA:101016
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:231550
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology OMIM:600072
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology OMIM:256800
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:71273
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:209880
Nmda Receptor Encephalitis
Orthostatic tachycardia, Abnormal sudomotor regulation, Abnormal autonomic nervous system physiol... ORPHA:217253

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 Pirt

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 Pirt.

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

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MGI Allele Allele Type Produced
Pirttm404303(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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