Gene Summary

Name:
NIMA (never in mitosis gene a)-related expressed kinase 9
Synonyms:
C130021H08Rik

IMPC Data Collections

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
preweaning lethality, complete penetrance Nek9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Nek9tm1a(EUCOMM)Wtsi HET Early adult 5.21×10-05
abnormal skin appearance Nek9tm1a(EUCOMM)Wtsi HET Early adult 1.38×10-08
increased circulating iron level Nek9tm1a(EUCOMM)Wtsi HET Early adult 6.71×10-06

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.

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Eye Morphology

Images Slit Lamp

2 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 66 images

Human diseases caused by Nek9 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.

The table below shows human diseases associated to Nek9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Fetal akinesia sequence OMIM:617022
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis OMIM:614262
Nevus Comedonicus
OMIM:617025

The table below shows human diseases predicted to be associated to Nek9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta ORPHA:439167
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
X-Linked Sideroblastic Anemia
Pallor, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Sideroblastic anemia, S... OMIM:615234
Hemochromatosis, Type 3
Purpura, Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin satu... OMIM:604250
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Skin ulcer, Thrombocytopenia, Splenomegaly, Abnormal hem... ORPHA:848
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254534
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... ORPHA:300298
Hemochromatosis, Type 2B
Anemia, Increased circulating iron concentration, Splenomegaly, Elevated transferrin saturation, ... OMIM:613313
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Fetal Akinesia Deformation Sequence 1
Stillbirth, Short umbilical cord, Polyhydramnios, Small placenta, Increased nuchal translucency, ... OMIM:208150
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:79230
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Skin ulcer, Anemia of inadequate production, Leukocytosis, Persi... ORPHA:231222
Primary Myelofibrosis
Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoiesis, Leukocytosis, Poikilocyto... ORPHA:824
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifida, ... OMIM:256520
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Restrictive Dermopathy
Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Premature birth, Premature ... ORPHA:1662
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Iron deficiency anemia, Increased serum bile acid concentr... OMIM:616278
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254528
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Greenberg Dysplasia
Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Neona... OMIM:215140
Aceruloplasminemia
Aceruloplasminemia, Increased circulating ferritin concentration, Anemia, Decreased circulating i... OMIM:604290
Congenital Syphilis
Myocarditis, Hydrops fetalis, Large placenta, Premature birth ORPHA:499009
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Erythema OMIM:614204
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Aortic regurgitation, Pulmonic stenosis, Abnormalities of placent... OMIM:222470
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Skin ulcer, Decreased mean corpus... ORPHA:231226
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Premature birth ORPHA:1708
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... OMIM:616959
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Skin vesicle, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Skin ulcer, ... ORPHA:231214
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Restrictive Dermopathy 1
Stillbirth, Short umbilical cord, Polyhydramnios, Neonatal death, Premature birth, Decreased feta... OMIM:275210
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Meckel Syndrome, Type 1
Single umbilical artery, Occipital encephalocele, Large placenta, Breech presentation, Anencephal... OMIM:249000
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Polyhydramnios, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Pre... ORPHA:96334
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Large placenta, Polyhydramnios, Hypertrophic cardiomyopathy, Premature ... ORPHA:116
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:465508
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr... ORPHA:309854
Syndromic Diarrhea
Abnormality of iron homeostasis, Hypoplasia of the thymus, Dry skin, Increased mean platelet volu... ORPHA:84064
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Fetal akinesia sequence OMIM:617022
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis OMIM:614262
Nevus Comedonicus
OMIM:617025

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 Nek9

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 Nek9.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Nek9tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Nek9tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nek9tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nek9tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Nek9tm1a(EUCOMM)Wtsi PMC5827107

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
Nek9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nek9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nek9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nek9tm2e(EUCOMM)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