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Gene: Map3k9 MGI:2449952

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Gene Summary

Name:
mitogen-activated protein kinase kinase kinase 9
Synonyms:
Mlk1

Order Alleles

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
eye hemorrhage Map3k9em1(IMPC)Mbp HOM Early adult 3.42×10-05
small kidney Map3k9em1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Map3k9em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Map3k9em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Map3k9em1(IMPC)Mbp HOM Early adult 0.00
enlarged testis Map3k9em1(IMPC)Mbp HOM Early adult 0.00
increased neutrophil cell number Map3k9em1(IMPC)Mbp HOM Early adult 2.93×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Whole Body Dorso Ventral

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Human diseases caused by Map3k9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Map3k9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Partington Syndrome
Facial telangiectasia, Macroorchidism ORPHA:94083
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Macroorchidism OMIM:300886
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Macroorchidism ORPHA:3077
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
47,Xyy Syndrome
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... ORPHA:8
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Thrombocytopenia,... ORPHA:88
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Tricuspid regurgitation, Aortic valve stenosis, Mitral ... ORPHA:324410
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxi... ORPHA:99827
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abnormal onset of bleeding ORPHA:180229
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Fragile X Syndrome
Macroorchidism ORPHA:908
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormal spleen morphology, Thrombocytopenia, Spl... ORPHA:464329
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Leukopenia, Subco... ORPHA:319213
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... ORPHA:231401
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Bradycardia, Reticulocytosis, Pericarditis, Leukopenia, Lymphopenia, ... ORPHA:99826
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Anemia, Melena, Petechiae, Capillary leak, Hypertension, Leukocytosis, Hypotension, ... ORPHA:340
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... ORPHA:464321
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Vasculitis, Decreased mean platelet volume, Vasculitis in the skin, Thrombocytopen... OMIM:617718
Mccune-Albright Syndrome
Pancytopenia, Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circulating ... ORPHA:562
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Elevated circulati... OMIM:620501
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut... OMIM:616738
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism OMIM:618874
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Trisomy 20P
Cryptorchidism, Hypospadias, Macroorchidism ORPHA:261318
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Pituitary hypothyroidism, Thyroid hypoplasia, Goiter, Increased circulating prolacti... ORPHA:90674
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... ORPHA:40923
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Leukemia, Hyphema, Vitreous hemorrhage, Pineoblastoma ORPHA:790
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituitary growth hormone cell a... ORPHA:1359
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous... ORPHA:261534
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal testis morphology, Neutrophilia, Brain abscess ORPHA:54251
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Anemia, Leukocytosis, Hypotension, Neutrophilia, T... ORPHA:91547
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Thrombocytopenia, Subconjunctival hemorrhage, Arrh... ORPHA:509
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Splenic cyst, Tricuspid regurgitation, Retinal hemorrhage, Cerebral hemorrhage, Intracranial hemo... OMIM:620371
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Fetal Cytomegalovirus Syndrome
Anemia, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly ORPHA:294
Waldenström Macroglobulinemia
Congestive heart failure, Normocytic anemia, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gi... ORPHA:33226
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Atelis Syndrome 2
Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia, Vitreous hemorrhage OMIM:620185
Retinoblastoma
Vitreous hemorrhage, Pinealoma, Leukemia OMIM:180200
Aspartylglucosaminuria
Vacuolated lymphocytes, Mitral regurgitation, Macroorchidism, Neutropenia OMIM:208400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... OMIM:192315
Proteus Syndrome
Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Mac... ORPHA:744
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage OMIM:177850
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Bifid scrotum, Asplenia, Hyphema, Aortic valve stenosis, Pulmonic stenosis, Chordee,... ORPHA:261552
Acute Generalized Exanthematous Pustulosis
Purpura, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Aspartylglucosaminuria
Splenomegaly, Macroorchidism ORPHA:93
Granulomatosis With Polyangiitis
Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Granulomatosis OMIM:608710
Rift Valley Fever
Hematemesis, Abnormal bleeding, Anemia, Melena, Gingival bleeding, Retinal hemorrhage, Thrombocyt... ORPHA:319251
Incontinentia Pigmenti
Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Retinal hemorrhage, Eosinop... OMIM:308300
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,... ORPHA:464
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Familial Drusen
Macular hemorrhage ORPHA:75376
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly, Autoimmune t... OMIM:620565
Yellow Fever
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Reduced left ventricular ejection fra... ORPHA:99829
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia OMIM:614653
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Sweet Syndrome
Small vessel vasculitis, Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile absc... ORPHA:3243
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Congestive heart failure, Anemia, Supraventricular arrhythmia, Myeloprolifera... ORPHA:3260
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Neutrophilia, Orchitis, Splenomegaly OMIM:249100
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Normocytic anemia, Reduced hematocrit, Normochromic anemia ORPHA:91500
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Cockayne Syndrome Type 3
Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Splenomegaly, Subdural hemorrhage ORPHA:90324
Cockayne Syndrome
Hypertension, Splenomegaly, Retinal hemorrhage, Cryptorchidism ORPHA:191
Trichinellosis
Retinal hemorrhage ORPHA:863
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Retinal hemorrhage, Cerebral hemorrhage, Hemolytic a... OMIM:175780
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Pulmo... ORPHA:51608

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 Map3k9

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 Map3k9.

No publications found that use IMPC mice or data for Map3k9.

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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
Map3k9em1(IMPC)Mbp Exon Deletion Mice
Map3k9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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