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Gene: Nek9 MGI:2387995

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Gene Summary

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

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
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
increased leukocyte cell number Nek9tm1a(EUCOMM)Wtsi HET Early adult 5.21×10-05
preweaning lethality, complete penetrance Nek9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

13 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Nek9tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Nek9tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Nek9tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Nek9tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Nek9tm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 66 images

Nek9tm1a(EUCOMM)Wtsi
flaky skin, HET, Male, WTSI
Nek9tm1a(EUCOMM)Wtsi
flaky skin, HET, Male, WTSI
Nek9tm1a(EUCOMM)Wtsi
flaky skin, HET, Male, WTSI
Nek9tm1a(EUCOMM)Wtsi
fused cornea and lens, HET, Male, WTSI
Nek9tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Nek9tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

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
Fetal akinesia sequence, Oligohydramnios, Hydrops fetalis 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
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Placental Insufficiency
Small placenta, Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology ORPHA:439167
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis OMIM:619398
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Pallor, Splenomegaly ORPHA:75563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Pallor, Splenomegaly, Elevate... OMIM:615234
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia 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
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Beta-Thalassemia
Skin ulcer, Microcytic anemia, Pallor, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemi... ORPHA:848
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Gracile Syndrome
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... OMIM:603358
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Hemochromatosis, Type 2B
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:613313
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Fetal Akinesia Deformation Sequence 1
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... OMIM:208150
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:79230
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... OMIM:231100
Beta-Thalassemia Intermedia
Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Short umbilical cord, Decreased fetal movement, Neonatal death, ... OMIM:256520
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Restrictive Dermopathy
Small placenta, Large placenta, Short umbilical cord, Decreased fetal movement, Premature deliver... ORPHA:1662
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254528
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Greenberg Dysplasia
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... OMIM:215140
Aceruloplasminemia
Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri... OMIM:604290
Congenital Syphilis
Myocarditis, Large placenta, Hydrops fetalis, Premature birth ORPHA:499009
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Erythema, Leukocytosis, Neutrophilia OMIM:614204
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Large placenta, Abnormalities of placenta or umbilical cord, Polyhydramnios... OMIM:222470
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... ORPHA:53693
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Skin ulcer, Hepa... ORPHA:231226
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Skin vesicle, Eosinophilia, Neutropenia, Neutrophilia, Scaling skin, Purpura ORPHA:293173
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Skin ulcer, Hepa... ORPHA:231214
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca... OMIM:613280
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Hydropic placenta, Oligohy... OMIM:275210
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Oligohydramnios, Breech presentation, Single umbilical a... OMIM:249000
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Hypertrophic cardiomyopathy, Large placenta, Pulmonary arterial hypertension, ... ORPHA:96334
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Polyhydr... ORPHA:116
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Splenomegaly, Increased circula... ORPHA:465508
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit... ORPHA:309854
Syndromic Diarrhea
Lymphopenia, Dry skin, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality of iro... ORPHA:84064
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Oligohydramnios, Hydrops fetalis 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

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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

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