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
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
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:
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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 Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

2 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, Spina bifida occulta 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
Placental Insufficiency
Maternal hypertension, Preeclampsia, Eclampsia, Abnormal placenta morphology, Small placenta, Spo... ORPHA:439167
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
X-Linked Sideroblastic Anemia
Pallor, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Anemia, Splenomega... OMIM:613313
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia 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
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Purpura, Lymphopenia, Neutropenia, Anemia, Increase... OMIM:604250
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased transferrin saturation, Increased serum i... ORPHA:300298
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia OMIM:212050
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Short umbilical cord, Stillbirth, Fetal akinesia sequence, Premature birth, Small... OMIM:208150
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Irida Syndrome
Pallor, Decreased circulating copper concentration ORPHA:209981
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... ORPHA:824
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Decreased fetal movement, Small p... OMIM:256520
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Pa... OMIM:616959
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Refractory Anemia With Excess Blasts
Anemic pallor, Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute ... ORPHA:86839
Restrictive Dermopathy
Polyhydramnios, Short umbilical cord, Large placenta, Decreased fetal movement, Premature birth, ... ORPHA:1662
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Abnormal circulating copper concentration, Anemia OMIM:121270
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254528
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, ... OMIM:616278
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia, Anemia OMIM:604290
Psoriasis 14, Pustular
Neutrophilia, Erythema, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:614204
Trichohepatoenteric Syndrome 1
Polyhydramnios, Aortic regurgitation, Large placenta, Abnormalities of placenta or umbilical cord... OMIM:222470
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Mosaic Trisomy 16
Maternal diabetes, Preeclampsia, Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Hypermanganesemia With Dystonia 1
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231214
Restrictive Dermopathy, Lethal
Polyhydramnios, Short umbilical cord, Premature rupture of membranes, Stillbirth, Decreased fetal... OMIM:275210
Meckel Syndrome, Type 1
Single umbilical artery, Large placenta, Oligohydramnios, Breech presentation OMIM:249000
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Increased serum iron, Scaling sk... ORPHA:101330
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Skin ulcer, Rectal abscess OMIM:116920
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Spinal dysraphism, Large placenta, Premature birth, Pulmonary arterial hypertensi... ORPHA:96334
Beckwith-Wiedemann Syndrome
Polyhydramnios, Large placenta, Umbilical hernia, Subchorionic septal cyst, Premature birth, Hype... ORPHA:116
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:465508
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Hyperglycinemia, Polycythemia, Abnormal transferrin satura... ORPHA:309854
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Increased mean platelet volume, Hyp... ORPHA:84064
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Fetal akinesia sequence OMIM:617022
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta 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
Nek9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nek9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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