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Gene: Pcnp MGI:1923552

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Gene Summary

Name:
PEST proteolytic signal containing nuclear protein
Synonyms:
1110018D06Rik

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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 heart morphology Pcnpem1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Pcnpem1(IMPC)Mbp HOM E9.5 0.00
enlarged epididymis Pcnpem1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube closure Pcnpem1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Pcnpem1(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Pcnpem1(IMPC)Mbp HOM   E15.5 0.00
abnormal optic vesicle formation Pcnpem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Pcnpem1(IMPC)Mbp HET E9.5 0.00
abnormal skin morphology Pcnpem1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Pcnpem1(IMPC)Mbp HOM E9.5 0.00
abnormal midbrain development Pcnpem1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Pcnpem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Pcnpem1(IMPC)Mbp HOM   Early adult 0.00
abnormal epididymis morphology Pcnpem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Pcnpem1(IMPC)Mbp HOM E9.5 0.00
abnormal otic vesicle morphology Pcnpem1(IMPC)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E9.5

Images

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Pcnp 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 Pcnp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Verheij Syndrome
Coloboma, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Webbed neck, Branchial anomaly, Sensorineural hearing impairme... ORPHA:1131
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Microtia, first de... OMIM:620444
Branchiootic Syndrome 3
Sensorineural hearing impairment, Branchial cyst OMIM:608389
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Coloboma, Abnormal helix... ORPHA:453499
Fryns Microphthalmia Syndrome
Macrotia, Neural tube defect OMIM:600776
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Sensorineural hearing impairment, Protruding ear, Branchial ... ORPHA:435938
Holoprosencephaly
Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Abnormal pinna morphology, Abnormal an... ORPHA:2162
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Bor Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hearing impairment, Atresia of... ORPHA:107
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Low-set ears, Holoprosencephaly, Ventricular septal defect OMIM:601357
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Low-set, posterio... ORPHA:1908
Branchiootic Syndrome
Abnormal middle ear morphology, Sensorineural hearing impairment, Hearing impairment, Conductive ... ORPHA:52429
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Abnormal antihelix morphology, Abnormal hel... ORPHA:261337
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Protruding ear, Branchial anomaly, Coloboma, Sensorineural hearing impairment, Increased nuchal t... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Protruding ear, Branchial anomaly, Coloboma, Sensorineural hearing impairment, Increased nuchal t... ORPHA:352665
Oligomeganephronia
Hearing impairment, Secundum atrial septal defect, Branchial cyst, Optic disc coloboma ORPHA:2260
Distal 22Q11.2 Microdeletion Syndrome
Abnormal earlobe morphology, Sensorineural hearing impairment, Truncus arteriosus, Short stature,... ORPHA:261330
Alg3-Cdg
Hearing impairment, Cardiomyopathy, Abnormal pinna morphology, Neural tube defect ORPHA:79321
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Patent foramen ovale, Microtia, Overfolded helix, Bilateral conductive ... OMIM:620186
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Short stature, Aor... OMIM:617660
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi... ORPHA:268810
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Hearing impairment, Branchial anomaly, Prominent antihelix, Posteriorly rotated ears ORPHA:466950
Treacher-Collins Syndrome
Iris coloboma, Encephalocele, Microtia, Conductive hearing impairment, Branchial fistula, Narrow ... ORPHA:861
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Asymmetry of the ears, Spina bifida occulta, Truncus arteriosus, B... ORPHA:508488
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Sensorineural hearing impairment, Microtia, Low-... OMIM:113620
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Low-set ears, Myelomeningocele, Spina bifi... ORPHA:63259
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Sensorineural hearing impairment, Micr... OMIM:164210
Witteveen-Kolk Syndrome
Protruding ear, Glue ear, Sensorineural hearing impairment, Growth delay, Short stature, Hearing ... OMIM:613406
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Alobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Sensorineural hearing impairment, Short stature, Gro... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Sensorineural hearing impairment, Short stature, Gro... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Sensorineural hearing impairment, Short stature, Gro... ORPHA:93924
Semilobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Sensorineural hearing impairment, Short stature, Gro... ORPHA:220386
Schinzel-Giedion Syndrome
Neural tube defect, Delayed eruption of teeth, Abnormal helix morphology, Abnormal cochlea morpho... ORPHA:798
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism ORPHA:2044

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 Pcnp

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 Pcnp.

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

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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.

MGI Allele Allele Type Produced
Pcnpem1(IMPC)Mbp Exon Deletion Mice, Tissue
Pcnptm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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