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

Download data as:  TSV  XLS

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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 Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Download thumbnail Download
MicroCT E9.5

Embryo reconstruction

8 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
Spina bifida, Spinal dysraphism ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... OMIM:609166
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Short stature, Conductive hearing impairment, Sensorineural he... ORPHA:1131
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... ORPHA:50815
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia OMIM:600776
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation, Sensorineural hearing impairment, Protruding... ORPHA:435938
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Extern... ORPHA:2162
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Anterior encephalocele, Coloboma, Holoprosencephaly, Low-set ears OMIM:601357
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... OMIM:113650
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Short stature, Situs... ORPHA:1908
Branchiootic Syndrome
Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... ORPHA:52429
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Hydrocephalus, Optic disc coloboma, Low posterior h... ORPHA:261337
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Increased nuchal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Increased nuchal... ORPHA:352665
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment ORPHA:2260
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Short stature, Sensorineural hearing impairment, Ab... ORPHA:261330
Alg3-Cdg
Neural tube defect, Abnormal pinna morphology, Hearing impairment, Cardiomyopathy ORPHA:79321
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Mixed hearing impairment, Short stature, Conductive hearing impairme... OMIM:620186
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left heart, Aorti... OMIM:617660
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Branchial anomaly, Posteriorly rotated ears, Hearing impairment ORPHA:466950
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Microtia, Conductive hearing impairment, Narrow internal audito... ORPHA:861
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Posteriorly r... ORPHA:508488
Branchiooculofacial Syndrome
Posteriorly rotated ears, Short neck, Postnatal growth retardation, Sensorineural hearing impairm... OMIM:113620
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Sensorineural hearing impairme... OMIM:164210
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Uplifted earlobe, Sensorineural hearing impairment, Cupped ear,... OMIM:613406
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Alobar Holoprosencephaly
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... ORPHA:220386
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormality of the stapes, Short neck, Abnormal heart morphology, Neur... ORPHA:798
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele 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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