Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein tyrosine phosphatase, receptor type, Q
Synonyms:
N/A

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 Ptprq 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.

The table below shows human diseases associated to Ptprq by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663

The table below shows human diseases predicted to be associated to Ptprq by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Hearing impairment, Head tremor ORPHA:95433
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Vestibular hypofunction, Cerebral... ORPHA:231169
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... ORPHA:52368
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Abnormal... ORPHA:107
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... ORPHA:1435
Schinzel-Giedion Syndrome
Large earlobe, Infantile sensorineural hearing impairment, Aganglionic megacolon, Abnormality of ... ORPHA:798
Norrie Disease
Optic atrophy, Macrotia, Sensorineural hearing impairment, Protruding ear, Abnormal helix morphol... ORPHA:649

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 Ptprq

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 Ptprq.

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

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.

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MGI Allele Allele Type Produced
Ptprqtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptprqtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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