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

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 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, Autosomal
Omphalocele OMIM:164750
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele
Omphalocele ORPHA:660
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
Femoral hernia, Inguinal 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
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Rhiny
Inguinal hernia OMIM:180360
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
2q33.1 deletion syndrome
Inguinal hernia DECIPHER:51
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Inguinal hernia, Neonatal death OMIM:619602
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Acalvaria
Omphalocele ORPHA:945
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele OMIM:614450
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Trigonocephaly 1
Omphalocele OMIM:190440
Bladder Exstrophy
Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia ORPHA:93930
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger ORPHA:1707
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Gastroschisis
Gastroschisis ORPHA:2368
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Omphalocele, Umbilical hernia ORPHA:254534
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Camptodactyly of toe, Omphalocele OMIM:175700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele ORPHA:93267
X-Linked Ehlers-Danlos Syndrome
Hernia, Inguinal hernia, Umbilical 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
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia, Omphalocele 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
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Diastasis recti, Inguinal hernia, Wrist flexion contracture, Flexion contractur... ORPHA:254528
Constricting Bands, Congenital
Omphalocele, Bladder exstrophy, Gastroschisis OMIM:217100
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Kagami-Ogata Syndrome
Flexion contracture, Diastasis recti, Inguinal hernia, Omphalocele OMIM:608149
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele OMIM:618316
Auriculocondylar Syndrome 2B
Omphalocele OMIM:620458
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia OMIM:235760
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele OMIM:601927
Meckel Syndrome, Type 2
Omphalocele OMIM:603194
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele OMIM:617895
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Death in childhood, Death in infancy, Enamel hypoplasia OMIM:243150
Thoracoabdominal Syndrome
Ventral hernia, Congenital diaphragmatic hernia, Omphalocele OMIM:313850
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Ventral hernia, Omphalocele OMIM:618529
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Death in childhood, Omphalocele, Neonatal death OMIM:619124
Trisomy 1Q
Congenital diaphragmatic hernia, Omphalocele, Camptodactyly of finger ORPHA:261344
Fibrochondrogenesis 1
Camptodactyly, Joint contracture of the hand, Omphalocele, Stillbirth OMIM:228520
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia OMIM:222448
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Triploidy
Omphalocele ORPHA:3376
Carpenter Syndrome 1
Camptodactyly, Joint contracture of the hand, Omphalocele, Umbilical hernia OMIM:201000
Teebi Hypertelorism Syndrome 1
Omphalocele OMIM:145420
Chromosome 9P Deletion Syndrome
Inguinal hernia, Omphalocele OMIM:158170
Focal Dermal Hypoplasia
Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Diastasis recti, In... ORPHA:2092
Melnick-Needles Syndrome
Omphalocele ORPHA:2484
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Chromosome 10Q26 Deletion Syndrome
Omphalocele OMIM:609625
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Inguinal hernia, Abnormality of the abdominal wall, Omphalocele, C... OMIM:247200
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele ORPHA:371428
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger ORPHA:2021
D-Lactic Aciduria With Gout
Inguinal hernia OMIM:245450
Vacterl/Vater Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:887
Mosaic Trisomy 1
Elbow flexion contracture, Congenital diaphragmatic hernia, Omphalocele, Camptodactyly of finger ORPHA:1692
C Syndrome
Omphalocele OMIM:211750
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Omphalocele, Neonatal death OMIM:269860
Developmental Delay With Or Without Dysmorphic Facies And Autism
Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia OMIM:618454
Lethal Congenital Contracture Syndrome 10
Omphalocele OMIM:617022
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Omphalocele ORPHA:1335
Cloacal Exstrophy
Cloacal exstrophy, Omphalocele, Bladder exstrophy ORPHA:93929
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Omphalocele ORPHA:254519
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Stillbirth OMIM:616300
Fryns Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2059
Pseudotrisomy 13 Syndrome
Omphalocele OMIM:264480
Trisomy 18
Hernia, Congenital diaphragmatic hernia, Omphalocele, Camptodactyly of finger ORPHA:3380
Iniencephaly
Gastroschisis, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Omphalocele ORPHA:63259
Opitz Gbbb Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2745
Acrocephalopolydactylous Dysplasia
Omphalocele OMIM:200995
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia OMIM:609141
Marshall-Smith Syndrome
Death in childhood, Omphalocele, Umbilical hernia OMIM:602535
Pagod Syndrome
Omphalocele, Congenital diaphragmatic hernia, Death in infancy ORPHA:991
3Mc Syndrome 1
Abnormality of the abdominal wall, Diastasis recti, Omphalocele OMIM:257920
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Deat... ORPHA:373
Otopalatodigital Syndrome Type 2
Omphalocele, Camptodactyly of finger ORPHA:90652
Bartsocas-Papas Syndrome 1
Inguinal hernia, Omphalocele, Inferiorly positioned umbilicus, Flexion contracture, Arthrogryposi... OMIM:263650
Robinow Syndrome, Autosomal Dominant 3
Camptodactyly, Omphalocele OMIM:616894
Codas Syndrome
Enamel hypoplasia, Omphalocele OMIM:600373
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Omphalocele OMIM:618419
Melnick-Needles Syndrome
Omphalocele, Stillbirth OMIM:309350
Fryns Syndrome
Joint contracture of the hand, Omphalocele, Stillbirth, Camptodactyly, Aplasia of the left hemidi... OMIM:229850
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Umbilical hernia ORPHA:2166
Osteopathia Striata With Cranial Sclerosis
Camptodactyly, Joint contracture of the hand, Omphalocele, Flexion contracture of toe OMIM:300373
Exstrophy-Epispadias Complex
Abdominal wall defect, Cystocele, Inguinal hernia, Cloacal exstrophy, Abnormality of the abdomina... ORPHA:322
Gm1 Gangliosidosis
Aplasia/Hypoplasia of the abdominal wall musculature, Inguinal hernia, Gastroschisis, Camptodacty... ORPHA:354
Alg9-Cdg
Lipodystrophy, Omphalocele ORPHA:79328
Holoprosencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:2162
Secondary Short Bowel Syndrome
Gastroschisis ORPHA:95427
Ablepharon Macrostomia Syndrome
Umbilical hernia, Omphalocele, Camptodactyly of finger ORPHA:920
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Cardiac Diverticulum
Diastasis recti, Abdominal wall defect, Omphalocele, Umbilical hernia ORPHA:1686
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Esophageal Atresia
Omphalocele ORPHA:1199
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Congenital diaphragmatic herni... ORPHA:1308
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele ORPHA:436252
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Diastasis recti, Hernia of the abdominal wall, Ompha... ORPHA:96334
Hypoglossia-Hypodactyly Syndrome
Gastroschisis, Death in infancy ORPHA:989
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Omphalocele, Neonatal death OMIM:265380
Oeis Complex
Cloacal exstrophy, Omphalocele, Bladder exstrophy OMIM:258040
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele ORPHA:3186
Necrotizing Enterocolitis
Gastroschisis ORPHA:391673
Focal Dermal Hypoplasia
Umbilical hernia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus herni... OMIM:305600
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia ORPHA:1519
Beckwith-Wiedemann Syndrome
Umbilical hernia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele ORPHA:116
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Ablepharon-Macrostomia Syndrome
Camptodactyly, Ventral hernia, Omphalocele OMIM:200110
Beckwith-Wiedemann Syndrome
Diastasis recti, Omphalocele OMIM:130650
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Umbilical hernia, Inguinal hernia, Death in childhood, Death in infancy, Neonatal death, Omphalocele OMIM:308205
Meckel Syndrome, Type 1
Omphalocele, Camptodactyly of finger OMIM:249000
Holoprosencephaly 7
Omphalocele OMIM:610828
Heterotaxy, Visceral, 1, X-Linked
Omphalocele OMIM:306955
Hydrolethalus Syndrome 1
Omphalocele, Stillbirth OMIM:236680
Charge Syndrome
Omphalocele, Umbilical hernia ORPHA:138
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal dental enamel morphology, Inguinal hernia, Omphalocele, Camptodactyly of finger ORPHA:2273
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Umbilical hernia, Omphalocele, Stillbirth OMIM:304120
Fraser Syndrome
Omphalocele, Death in infancy, Umbilical hernia ORPHA:2052
Okamoto Syndrome
Omphalocele ORPHA:2729
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal her... OMIM:601803
Charge Syndrome
Omphalocele, Umbilical hernia OMIM:214800
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Gastroschisis ORPHA:818
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Gastroschisis OMIM:154400
Duplication Of Urethra
Gastroschisis ORPHA:237
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele ORPHA:93271
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Gastroschisis OMIM:273395

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

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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

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