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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

Order Alleles

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
preweaning lethality, complete penetrance Prrc2cem1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Prrc2cem1(IMPC)J HOM E18.5 0.00
abnormal vocalization Prrc2cem1(IMPC)J HET Early adult 2.42×10-10
abnormal neural tube morphology Prrc2cem1(IMPC)J HOM E9.5 0.00
abnormal auditory brainstem response Prrc2cem1(IMPC)J HET   Early adult 0.000146
hyperactivity Prrc2cem1(IMPC)J HET Early adult 2.24×10-06
abnormal neural tube closure Prrc2cem1(IMPC)J HOM E9.5 0.00
abnormal coat/ hair morphology Prrc2cem1(IMPC)J HET Early adult 2.71×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Schizophrenia 15
Hyperactivity OMIM:613950
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal repetitive man... OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, EEG abnormality, Inappropriate laughter, Polyphagia ORPHA:411515
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline OMIM:617523
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:300406
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Synophrys, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized epilept... ORPHA:163681
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Hirsutism, Hearing impairment OMIM:252920
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... 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
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... OMIM:609136
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, L... ORPHA:79330
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... ORPHA:909
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Alg3-Cdg
Neural tube defect ORPHA:79321
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior ORPHA:401973
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Cockayne Syndrome B
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:133540
Cockayne Syndrome A
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduct... 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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