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Gene: Nckap1 MGI:1355333

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
NCK-associated protein 1
Synonyms:
Hem2,  Hem-2,  H19,  mh19,  Nap1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Nckap1 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 Nckap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Cleft palate, Holoprosencephaly ORPHA:945
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... ORPHA:2476
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo... ORPHA:1759
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:63862
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia ORPHA:2345
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy OMIM:207950
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Caudal Duplication
Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia ORPHA:63260
Wildervanck Syndrome
Meningocele ORPHA:3456
Sirenomelia
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia ORPHA:3169
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate ORPHA:66637
Humero-Radial Synostosis
Meningocele ORPHA:3265
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate OMIM:603194
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Blepharocheilodontic Syndrome 1
Neural tube defect, Anal atresia OMIM:119580
Anophthalmia Plus Syndrome
Cleft palate, Spina bifida, Bilateral cleft lip and palate ORPHA:1104
Triploidy
Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Abnormal cardiac ... ORPHA:3376
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala... ORPHA:2437
Alg3-Cdg
Macroglossia, Neural tube defect, Cardiomyopathy, High palate, Abnormal uvula morphology ORPHA:79321
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Spina bifida ORPHA:1327
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft palate ORPHA:60015
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration ORPHA:2481
Amish Lethal Microcephaly
Lissencephaly, Cleft soft palate, Spina bifida ORPHA:99742
Waardenburg Syndrome Type 1
Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida ORPHA:894
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Cleft palate, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta ORPHA:2311
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Bilateral cleft lip and palate ORPHA:2003
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate OMIM:614424
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... ORPHA:1393
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Meningocele ORPHA:2031
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Neu-Laxova Syndrome 2
Cleft palate, High palate, Spina bifida, Lissencephaly OMIM:616038
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... OMIM:130720
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess OMIM:600145
Lateral Meningocele Syndrome
Ventricular septal defect, High, narrow palate, Meningocele, High palate, Umbilical hernia ORPHA:2789
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia ORPHA:2839
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Intestina... ORPHA:99776
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Median cleft palate ORPHA:1827
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Polymicrogyria, Submucous cleft hard palate, Abnormalit... ORPHA:2671
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomeningocele, Occip... OMIM:601707
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Lumbar Syndrome
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida ORPHA:83628
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Abnormality of neuronal migrati... ORPHA:991
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Atrial septal defect, Occipital me... OMIM:616546
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, High palate, Umbilical hernia OMIM:613776
Trisomy 18
Ventricular septal defect, Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow pa... ORPHA:3380
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... ORPHA:3412
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypoplastic left heart, Occipit... OMIM:277170
Cloacal Exstrophy
Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia ORPHA:93929
Trisomy 20P
Umbilical hernia, Ectopic anus, Spina bifida ORPHA:261318
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... OMIM:109400
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate, Stillbirth, Liss... OMIM:256520
Nail-Patella Syndrome
Cleft palate, Spina bifida OMIM:161200
Jacobsen Syndrome
Ventricular septal defect, Intestinal malrotation, Spina bifida, Pyloric stenosis, Duodenal atres... ORPHA:2308
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Lathosterolosis
Meningocele, High palate ORPHA:46059
Phocomelia, Schinzel Type
High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:2879
Fanconi Anemia
Meckel diverticulum, Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydroc... ORPHA:84
Aicardi Syndrome
Spina bifida, Hiatus hernia, Cleft palate, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Aganglionic megacol... ORPHA:567
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... OMIM:192350
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, High palate, Spina bifida OMIM:234100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... ORPHA:508498
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Bifid uvula, Spina bifida OMIM:619480
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft pal... OMIM:274000
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... OMIM:610828
Knobloch Syndrome 1
Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus, Occipital meningocele, Spina... OMIM:267750
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Abnormal heart morphology... OMIM:114290
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Esophageal varix OMIM:243910
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, High, narrow palate, Patent ductus arteriosus, Cleft pal... OMIM:180849
Marfan Syndrome
Mitral valve calcification, High, narrow palate, Meningocele, Cleft palate, Mitral valve prolapse ORPHA:558
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Exstrophy-Epispadias Complex
Anal stenosis, Spina bifida, Hydrocephalus, Abnormal heart morphology, Anal atresia ORPHA:322
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Cleft palate, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, High palate, Narrow palate OMIM:276820

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 Nckap1

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 Nckap1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The WAVE Regulatory Complex Is Required to Balance Protrusion and Adhesion in Migration. Cells (July 2020) Nckap1tm1a(EUCOMM)Hmgu PMC7407199

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nckap1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nckap1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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