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
increased circulating iron level Nek9tm1a(EUCOMM)Wtsi HET Early adult 6.71×10-06
abnormal skin appearance Nek9tm1a(EUCOMM)Wtsi HET Early adult 1.38×10-08
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 Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Slit Lamp

2 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
Oligohydramnios, Hydrops fetalis, 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
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Placental Insufficiency
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Abnorma... ORPHA:439167
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Pallor, Splenomegaly ORPHA:75563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Purpura, Increased serum iron, Neutrop... OMIM:604250
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Pallor, Abnormality of iron homeostasis, Microcytic anemia, Sk... ORPHA:848
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254534
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Pallor, Anisocytosis, Poikilocytosis, Incr... ORPHA:98870
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Increased serum iron, Anemia, Elevate... OMIM:613313
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Fetal Akinesia Deformation Sequence 1
Fetal akinesia sequence, Short umbilical cord, Small placenta, Polyhydramnios, Stillbirth, Premat... OMIM:208150
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Irida Syndrome
Pallor, Decreased circulating copper concentration ORPHA:209981
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
Primary Myelofibrosis
Petechiae, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepatosplenomegaly, ... ORPHA:824
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Small placenta, Polyhydramnios, Spina bifida, Stillbirth, ... OMIM:256520
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Decreased serum iron, Poikilocytosis, El... OMIM:616959
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, A... ORPHA:86839
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... OMIM:616278
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Restrictive Dermopathy
Short umbilical cord, Small placenta, Polyhydramnios, Premature delivery because of cervical insu... ORPHA:1662
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254528
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia OMIM:612840
Greenberg Dysplasia
Echogenic fetal bowel, Hydrops fetalis, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios... OMIM:215140
Psoriasis 14, Pustular
Erythema, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis OMIM:614204
Aceruloplasminemia
Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased serum iron OMIM:604290
Kagami-Ogata Syndrome
Polyhydramnios, Premature birth, Large placenta ORPHA:254519
Mosaic Trisomy 16
Single umbilical artery, Preeclampsia, Maternal diabetes, Premature birth, Large placenta ORPHA:1708
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Abnormalities of placenta or umbilical cord, Polyhydramnios, Aortic regurgitat... OMIM:222470
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... OMIM:613280
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Restrictive Dermopathy 1
Premature rupture of membranes, Short umbilical cord, Neonatal death, Spontaneous chorioamniotic ... OMIM:275210
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Meckel Syndrome, Type 1
Single umbilical artery, Anencephaly, Oligohydramnios, Occipital encephalocele, Breech presentati... OMIM:249000
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Elevated circulating C-reactive protein concentration, Rectal abscess, Leukocytosis OMIM:116920
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypertrophic cardiomyopathy, Polyhydramnios, Spinal dysraphism, Pulmonary arterial hypertension, ... ORPHA:96334
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Polyhydramnios, Umbilical hernia, Hypertrophic cardiomyopathy, Prematur... ORPHA:116
Urachal Cyst
Erythema, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:488
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Dry skin, Increased mean platelet volume, Th... ORPHA:84064
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Splenomegaly, Polycythemia, Abnormal transferrin sa... ORPHA:309854
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... ORPHA:447
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hydrops fetalis, 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
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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