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Gene: Prrc2c MGI:1913754

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Gene Summary

Name:
proline-rich coiled-coil 2C
Synonyms:
Bat2d,  1810043M20Rik,  9630039I18Rik,  Bat2l2

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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
abnormal embryo size Prrc2cem1(IMPC)J HOM E18.5 0.00
abnormal vocalization Prrc2cem1(IMPC)J HET Early adult 2.42×10-10
abnormal coat/ hair morphology Prrc2cem1(IMPC)J HET Early adult 2.71×10-05
abnormal neural tube morphology Prrc2cem1(IMPC)J HOM E9.5 0.00
abnormal auditory brainstem response Prrc2cem1(IMPC)J HET   Early adult 0.000115
preweaning lethality, complete penetrance Prrc2cem1(IMPC)J HOM   Early adult 0.00
abnormal neural tube closure Prrc2cem1(IMPC)J HOM E9.5 0.00
hyperactivity Prrc2cem1(IMPC)J HET Early adult 2.24×10-06

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.

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MicroCT E18.5

Embryo reconstruction

6 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 Prrc2c 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 Prrc2c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Schizophrenia 15
Hyperactivity OMIM:613950
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Low-set ears, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Developmental And Epileptic Encephalopathy 104
Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... OMIM:617519
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Abcd Syndrome
Albinism, Aganglionic megacolon, Hearing impairment, White eyelashes, Total intestinal agangliono... OMIM:600501
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Intellectual Developmental Disorder, X-Linked 101
Macrotia, Optic atrophy, Hyperactivity OMIM:300928
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Impulsivity, Agitation ORPHA:100973
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity OMIM:239500
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Attention deficit hyperactivity disorder, Dysphagia, Abnorma... ORPHA:52368
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Hyperactivity OMIM:617169
Landau-Kleffner Syndrome
EEG with generalized epileptiform discharges, Hyperactivity, EEG with temporal focal spikes, Atte... ORPHA:98818
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Low posterior hairline, Abnormal auditory evoked potentials, Long eyelashes, Optic disc pallor OMIM:617523
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Attention deficit hyperactivity disorder, Decreas... ORPHA:206443
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, EEG abnormality, Hypopigmentation of hair, Hyperactivity ORPHA:411515
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Intellectual Developmental Disorder, X-Linked 21
Synophrys, Uplifted earlobe, Hyperactivity, Impulsivity OMIM:300143
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Synophrys, Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Attention deficit hyperactivity disorder, Abnormality of ... OMIM:301013
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, EEG with burst suppression, Hyperactivity OMIM:619239
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Dysphagia, Abnormal ... ORPHA:99027
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Mogs-Cdg
Long eyelashes, Absent brainstem auditory responses, Alopecia, Fair hair, Hirsutism, Sensorineura... ORPHA:79330
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Absent brainstem audit... OMIM:609136
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Alg3-Cdg
Neural tube defect ORPHA:79321
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Cerebrotendinous Xanthomatosis
Agitation, Optic neuropathy, Abnormal motor evoked potentials, Attention deficit hyperactivity di... ORPHA:909
Trisomy 10P
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Dysphagia, Abnorm... ORPHA:171929
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hearing impairment, Abnormality of peripheral nerve conducti... ORPHA:90321
Cockayne Syndrome B
Abnormal pinna morphology, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:133540
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Cockayne Syndrome A
Abnormal pinna morphology, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:216400
Histidinemia
Hyperactivity ORPHA:2157
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:220386

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 Prrc2c

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 Prrc2c.

No publications found that use IMPC mice or data for Prrc2c.

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MGI Allele Allele Type Produced
Prrc2ctm460365(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prrc2cem1(IMPC)J Exon Deletion Mice

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