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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
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

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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.

DSS Histology

Images

8 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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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Anti-nuclear antibody assay

Images

6 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
Oligohydramnios, Hydrops fetalis, 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
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... 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
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Pallor, Abnormality of iron homeostasis ORPHA:75563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
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
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Skin ulcer, Pallor, Abnor... ORPHA:848
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Unconjugated hyperbilirubinemi... OMIM:300908
Hemochromatosis, Type 2B
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... OMIM:613313
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Stillbirth, Neon... OMIM:256520
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, Leukocytosis, Splen... ORPHA:824
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po... OMIM:616959
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemic pallor, Anemia of inad... ORPHA:86839
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios ORPHA:254528
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Aceruloplasminemia
Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Erythema, Elevated circulating C-reactive protein concentration OMIM:614204
Kagami-Ogata Syndrome
Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord... OMIM:222470
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Scaling skin, Neutropenia, Skin vesicle, Purpura ORPHA:293173
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Breech presentation, Anencephaly, Single umbilical arter... 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
Premature birth, Polyhydramnios, Large placenta, Spinal dysraphism, Pulmonary arterial hypertensi... ORPHA:96334
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia, Hype... ORPHA:116
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Abno... ORPHA:465508
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Splenomegaly, Hyperglycinemia, Increased total iro... ORPHA:309854
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Dry skin, Hypoplasia of the thymus, Abnormality of ... ORPHA:84064
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hydrops fetalis, 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

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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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