banner
Genes Phenotypes Help, News, Blog

Gene: Nuak1 MGI:1925226

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NUAK family, SNF1-like kinase, 1
Synonyms:
B230104P22Rik

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 Nuak1 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 Nuak1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Omphalocele
Omphalocele ORPHA:660
Omphalocele, Autosomal
Omphalocele OMIM:164750
Omphalocele, X-Linked
Omphalocele OMIM:310980
Gastroschisis
Gastroschisis ORPHA:2368
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy OMIM:258320
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Polydactyly-Myopia Syndrome
Inguinal hernia, Femoral hernia ORPHA:2917
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Rhiny
Inguinal hernia OMIM:180360
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
2q33.1 deletion syndrome
Inguinal hernia DECIPHER:51
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Acalvaria
Omphalocele ORPHA:945
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Inguinal hernia OMIM:619602
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele OMIM:614450
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
Trigonocephaly 1
Omphalocele OMIM:190440
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly OMIM:601389
Bladder Exstrophy
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy ORPHA:93930
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger ORPHA:1707
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Umbilical hernia, Diastasis recti ORPHA:254534
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele ORPHA:93267
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
Caudal Duplication
Omphalocele ORPHA:1756
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele OMIM:601357
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis ORPHA:2476
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Death in infancy, Umbilical hernia ORPHA:2241
Constricting Bands, Congenital
Omphalocele, Bladder exstrophy, Gastroschisis OMIM:217100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Camptodactyly, Umbilical hern... ORPHA:254528
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Flexion contracture, Diastasis recti OMIM:608149
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia OMIM:235760
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele OMIM:618316
Meckel Syndrome, Type 2
Omphalocele OMIM:603194
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele OMIM:601927
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele OMIM:617895
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Thoracoabdominal Syndrome
Omphalocele, Congenital diaphragmatic hernia, Ventral hernia OMIM:313850
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Death in infancy, Enamel hypoplasia, Death in childhood OMIM:243150
Developmental And Epileptic Encephalopathy 89
Neonatal death, Flexion contracture, Omphalocele, Death in childhood OMIM:619124
Trisomy 1Q
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Fibrochondrogenesis 1
Omphalocele, Joint contracture of the hand, Stillbirth, Camptodactyly OMIM:228520
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
D-Lactic Aciduria With Gout
Inguinal hernia OMIM:245450
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Camptodactyly OMIM:618529
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia ORPHA:1834
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Triploidy
Omphalocele ORPHA:3376
Carpenter Syndrome 1
Omphalocele, Umbilical hernia, Joint contracture of the hand, Camptodactyly OMIM:201000
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,... ORPHA:2092
Teebi Hypertelorism Syndrome 1
Omphalocele OMIM:145420
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia OMIM:158170
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Melnick-Needles Syndrome
Omphalocele ORPHA:2484
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Chromosome 10Q26 Deletion Syndrome
Omphalocele OMIM:609625
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Abnormality of the abdominal wall, Camptodactyly, Joint contracture... OMIM:247200
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger ORPHA:2021
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele ORPHA:371428
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:887
Mosaic Trisomy 1
Omphalocele, Elbow flexion contracture, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1692
Short-Rib Thoracic Dysplasia 12
Neonatal death, Inguinal hernia, Omphalocele OMIM:269860
C Syndrome
Omphalocele OMIM:211750
Lethal Congenital Contracture Syndrome 10
Omphalocele OMIM:617022
Pentalogy Of Cantrell
Omphalocele, Congenital diaphragmatic hernia ORPHA:1335
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:618454
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Diastasis recti ORPHA:254519
Cloacal Exstrophy
Omphalocele, Bladder exstrophy, Cloacal exstrophy ORPHA:93929
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Stillbirth OMIM:616300
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2059
Pseudotrisomy 13 Syndrome
Omphalocele OMIM:264480
Trisomy 18
Omphalocele, Hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:3380
Iniencephaly
Omphalocele, Arthrogryposis multiplex congenita, Gastroschisis, Congenital diaphragmatic hernia ORPHA:63259
Opitz Gbbb Syndrome
Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2745
Acrocephalopolydactylous Dysplasia
Omphalocele OMIM:200995
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia OMIM:609141
3Mc Syndrome 1
Omphalocele, Abnormality of the abdominal wall, Diastasis recti OMIM:257920
Pagod Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia ORPHA:991
Marshall-Smith Syndrome
Omphalocele, Umbilical hernia, Death in childhood OMIM:602535
Simpson-Golabi-Behmel Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... ORPHA:373
Otopalatodigital Syndrome Type 2
Omphalocele, Camptodactyly of finger ORPHA:90652
Bartsocas-Papas Syndrome 1
Omphalocele, Inguinal hernia, Flexion contracture, Arthrogryposis multiplex congenita, Inferiorly... OMIM:263650
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Camptodactyly OMIM:616894
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Diastasis recti OMIM:618419
Codas Syndrome
Omphalocele, Enamel hypoplasia OMIM:600373
Fryns Syndrome
Omphalocele, Aplasia of the left hemidiaphragm, Stillbirth, Camptodactyly, Joint contracture of t... OMIM:229850
Melnick-Needles Syndrome
Omphalocele, Stillbirth OMIM:309350
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Umbilical hernia ORPHA:2166
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Joint contracture of the hand, Flexion contracture of toe, Camptodactyly OMIM:300373
Exstrophy-Epispadias Complex
Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abdominal wall defect... ORPHA:322
Gm1 Gangliosidosis
Gastroschisis, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodacty... ORPHA:354
Holoprosencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:2162
Alg9-Cdg
Omphalocele, Lipodystrophy ORPHA:79328
Ablepharon Macrostomia Syndrome
Omphalocele, Umbilical hernia, Camptodactyly of finger ORPHA:920
Secondary Short Bowel Syndrome
Gastroschisis ORPHA:95427
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Cardiac Diverticulum
Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti ORPHA:1686
Necrotizing Enterocolitis
Gastroschisis ORPHA:391673
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
C Syndrome
Omphalocele, Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital d... ORPHA:1308
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele ORPHA:436252
Esophageal Atresia
Omphalocele ORPHA:1199
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Flexion c... ORPHA:96334
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Gastroschisis ORPHA:989
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Omphalocele, Diastasis recti OMIM:265380
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele ORPHA:3186
Oeis Complex
Omphalocele, Bladder exstrophy, Cloacal exstrophy OMIM:258040
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Death in childhood, Neonatal death, Umbilical hernia OMIM:308205
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Um... OMIM:305600
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia ORPHA:1519
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:116
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Meckel Syndrome, Type 1
Omphalocele, Camptodactyly of finger OMIM:249000
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Camptodactyly OMIM:200110
Holoprosencephaly 7
Omphalocele OMIM:610828
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti OMIM:130650
Hydrolethalus Syndrome 1
Omphalocele, Stillbirth OMIM:236680
Heterotaxy, Visceral, 1, X-Linked
Omphalocele OMIM:306955
Fraser Syndrome
Omphalocele, Death in infancy, Umbilical hernia ORPHA:2052
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Camptodactyly of finger, Inguinal hernia, Abnormal dental enamel morphology ORPHA:2273
Otopalatodigital Syndrome, Type Ii
Omphalocele, Umbilical hernia, Stillbirth, Elbow contracture OMIM:304120
Okamoto Syndrome
Omphalocele ORPHA:2729
Charge Syndrome
Omphalocele, Umbilical hernia OMIM:214800
Acrofacial Dysostosis 1, Nager Type
Gastroschisis, Congenital diaphragmatic hernia OMIM:154400
Smith-Lemli-Opitz Syndrome
Gastroschisis, Abnormal dental enamel morphology, Congenital diaphragmatic hernia ORPHA:818
Tetraamelia Syndrome 1
Gastroschisis, Congenital diaphragmatic hernia OMIM:273395
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Stillbirth, C... OMIM:601803
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele ORPHA:93271
Duplication Of Urethra
Gastroschisis ORPHA:237

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 Nuak1

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 Nuak1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The AMPK-related kinase NUAK1 controls cortical axons branching by locally modulating mitochondrial metabolic functions. Nature communications (March 2024) Nuak1tm1c(KOMP)Wtsi Nuak1tm1a(KOMP)Wtsi PMC10958033
Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice. Nature communications (October 2018) Nuak1tm1a(KOMP)Wtsi PMC6191442

Order Mouse and ES Cells

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
Nuak1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nuak1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter