Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Purkinje cell protein 4
Synonyms:
Pep19,  Pcp-4,  P16Rimb19

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 Pcp4 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 Pcp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618619
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:619833
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:3078
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Agenesis of corpus callosu... ORPHA:79243
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Ventriculomegaly ORPHA:1855
Halperin-Birk Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618651
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation ORPHA:178469
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly ORPHA:488627
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Lateral ventricle dilatation, Ventriculomegaly, Colpocephaly, Dandy-Walk... ORPHA:397715
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Cach Syndrome
Lateral ventricle dilatation ORPHA:135
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:617260
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Wars2-Related Combined Oxidative Phosphorylation Defect
Lateral ventricle dilatation, Dilated fourth ventricle, Ventriculomegaly ORPHA:572798
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Dysplastic corpus callosum ORPHA:544488
Distal Monosomy 10Q
Lateral ventricle dilatation ORPHA:96148
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Khan-Khan-Katsanis Syndrome
Colpocephaly OMIM:618460
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation ORPHA:2822
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:618820
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum OMIM:301043
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation ORPHA:177907
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Dandy-Walker malformation OMIM:270400
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology ORPHA:353277
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum, Ventricul... ORPHA:500150
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261552

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 Pcp4

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 Pcp4.

No publications found that use IMPC mice or data for Pcp4.

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MGI Allele Allele Type Produced
Pcp4tm420615(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pcp4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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