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:
mh19,  Hem-2,  H19,  Nap1,  Hem2

IMPC Data Collections

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

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.

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
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Anencephaly, Ectopic anus, Hypoplastic left heart, Cleft... ORPHA:2476
Acalvaria
Spina bifida, Holoprosencephaly, Abnormality of neuronal migration, Cleft palate, Hydrocephalus ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Neural tube defect OMIM:600776
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect, Ectopic anus, Anal atresia, Cleft palate ORPHA:2345
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Acropectorovertebral Dysplasia
Spina bifida, High, narrow palate, Cleft palate ORPHA:957
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Meningocele, Dextrocardia, Duodenal ... ORPHA:1759
Schisis Association
Spina bifida, Anencephaly, Anal atresia, Cleft palate, Tracheoesophageal fistula ORPHA:63862
Caudal Duplication
Spina bifida, Myelomeningocele, Intestinal duplication ORPHA:1756
Blepharocheilodontic Syndrome 1
Anal atresia, Neural tube defect OMIM:119580
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Anal atresia, Myelomeningocele ORPHA:63260
Sirenomelia
Spina bifida, Sirenomelia, Anal atresia, Tracheoesophageal fistula ORPHA:3169
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia OMIM:207950
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida, Lissencephaly ORPHA:99742
Anophthalmia Plus Syndrome
Spina bifida, Bilateral cleft lip and palate, Cleft palate ORPHA:1104
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, High palate, Tracheoesophageal fistula, Myelome... ORPHA:2437
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Spina bifida ORPHA:1327
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Aganglionic megacolon, Cleft palate ORPHA:894
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Meningocele, Hydranencephaly, Glossoptosis, Short hard p... ORPHA:1393
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Duodenal atresia, Anal atresia, ... ORPHA:63259
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gy... ORPHA:2671
Pelvis-Shoulder Dysplasia
Spina bifida, Microglossia, Hydranencephaly, Cleft palate, Hydrocephalus ORPHA:2839
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Lumbar Syndrome
Ectopic anus, Spina bifida, Myelomeningocele, Anal atresia ORPHA:83628
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Esophageal atresia, Aqueductal stenosis, Anal atresia, Tracheoesop... ORPHA:3412
Trisomy 18
Spina bifida, Atrial septal defect, Narrow palate, Ventricular septal defect, Holoprosencephaly, ... ORPHA:3380
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormality of neuronal migration, Meningocele, Hypoplastic... ORPHA:991
Trisomy 20P
Ectopic anus, Spina bifida, Umbilical hernia ORPHA:261318
Cloacal Exstrophy
Spina bifida, Intestinal malrotation, Intestinal duplication, Anal atresia, Myelomeningocele ORPHA:93929
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Stillbirth, Ventricular septal defect, Patent ductus arterios... OMIM:256520
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Cleft palate, H... OMIM:109400
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Focal Dermal Hypoplasia
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Duodenal atr... ORPHA:2092
Hallermann-Streiff Syndrome
High palate, Spina bifida, High, narrow palate, Narrow palate OMIM:234100
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Jacobsen Syndrome
Spina bifida, Pachygyria, Ventricular septal defect, Intestinal malrotation, Ectopic anus, Aortic... ORPHA:2308
Nail-Patella Syndrome
Spina bifida, Cleft palate OMIM:161200
Fanconi Anemia
Meckel diverticulum, Spina bifida, Atrial septal defect, Aplasia/Hypoplasia of the uvula, Patent ... ORPHA:84
Aicardi Syndrome
Hiatus hernia, Spina bifida, Pachygyria, Gray matter heterotopia, Polymicrogyria, Cleft palate OMIM:304050
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Spina bifida, Atrial septal defect, Ventricular septal defect, Tetralogy of ... OMIM:274000
22Q11.2 Deletion Syndrome
Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventricular septal def... ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular septal de... ORPHA:508498
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Esophageal atresia, Anal atres... OMIM:192350
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmoni... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmoni... ORPHA:363958
Alobar Holoprosencephaly
Abnormal heart morphology, Neural tube defect, Cleft palate, Bifid uvula, High palate, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Neural tube defect, Cleft palate, Bifid uvula, High palate, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Neural tube defect, Cleft palate, Bifid uvula, High palate, Hydrocephalus ORPHA:93924
Semilobar Holoprosencephaly
Abnormal heart morphology, Neural tube defect, Cleft palate, Bifid uvula, High palate, Hydrocephalus ORPHA:220386
Schinzel-Giedion Syndrome
Macroglossia, Abnormal heart morphology, Aganglionic megacolon, Umbilical hernia, Neural tube def... ORPHA:798
Exstrophy-Epispadias Complex
Spina bifida, Anal stenosis, Abnormal heart morphology, Anal atresia, Hydrocephalus ORPHA:322
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278

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

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

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