Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
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 heart morphology Pcnpem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Pcnpem1(IMPC)Mbp HOM E9.5 0.00
abnormal skin morphology Pcnpem1(IMPC)Mbp HET Early adult 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
abnormal neural tube morphology Pcnpem1(IMPC)Mbp HOM E9.5 0.00
enlarged epididymis Pcnpem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pcnpem1(IMPC)Mbp HOM   Early adult 0.00
abnormal embryo turning 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

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.

MicroCT E9.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Webbed neck, Branchial anomaly ORPHA:1131
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Anterior encephalocele, Holoprosencephaly, Coloboma OMIM:601357
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Holoprosencephaly, Short neck, Tetralogy of F... ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Coloboma, Ventricular... ORPHA:453499
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma ORPHA:2260
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Coloboma, Ventricular septal defect, Cystic hygroma,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Coloboma, Ventricular septal defect, Cystic hygroma,... ORPHA:352665
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Hydrocephalus, Branchial fistula, Optic disc coloboma, Ventricular sept... ORPHA:261337
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Bor Syndrome
Branchial cyst ORPHA:107
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Limitation of neck motion, Meningocele,... ORPHA:268810
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Branchial fistula, Atrial septal defect, Truncus arteriosus ORPHA:261330
Treacher-Collins Syndrome
Encephalocele, Iris coloboma, Branchial fistula ORPHA:861
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Cystic hygrom... ORPHA:63259
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Branchiooculofacial Syndrome
Retinal coloboma, Short neck, Iris coloboma, Branchial anomaly, Low posterior hairline OMIM:113620
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Hypospadias, Epididymal cyst OMIM:137920
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Retinal coloboma, Short neck, Spina bifida occulta, Ventricular se... ORPHA:508488
Craniofacial Microsomia
Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Branchial anomaly, Occipital encep... OMIM:164210
Witteveen-Kolk Syndrome
Iris coloboma, Branchial fistula OMIM:613406
Alobar Holoprosencephaly
Hydrocephalus, Cyclopia, Neural tube defect, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Cyclopia, Neural tube defect, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Cyclopia, Neural tube defect, Abnormal heart morphology ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Cyclopia, Neural tube defect, Abnormal heart morphology ORPHA:220386
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidi... OMIM:136140
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidism,... ORPHA:2044
Schinzel-Giedion Syndrome
Short neck, Delayed eruption of teeth, Neural tube defect, Umbilical hernia, Abnormal heart morph... ORPHA:798

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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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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