Gene Summary

Name:
selenoprotein K
Synonyms:
Selk,  30kDa,  HSPC030

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
decreased circulating magnesium level Selenoktm1a(EUCOMM)Wtsi HOM   Early adult 5.87×10-05
decreased mean platelet volume Selenoktm1a(EUCOMM)Wtsi HOM   Early adult 3.12×10-05
decreased lean body mass Selenoktm1a(EUCOMM)Wtsi HOM   Early adult 4.01×10-05
abnormal spine curvature Selenoktm1b(EUCOMM)Wtsi HOM Early adult 5.04×10-05
abnormal vertebral arch morphology Selenoktm1b(EUCOMM)Wtsi HOM   Early adult 4.87×10-05
abnormal auditory brainstem response Selenoktm1b(EUCOMM)Wtsi HOM   Early adult 1.22×10-08
increased total body fat amount Selenoktm1a(EUCOMM)Wtsi HOM   Early adult 7.88×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (8 of 8)
Aorta N/A heterozygote 100% (8 of 8)
Blood vessel N/A heterozygote 0.0% (0 of 8)
Bone N/A heterozygote 0.0% (0 of 8)
Brain N/A heterozygote 100% (8 of 8)
Brainstem N/A heterozygote 100% (8 of 8)
Brown adipose tissue N/A heterozygote 0.0% (0 of 8)
Cartilage tissue N/A heterozygote 100% (8 of 8)
Cerebellum N/A heterozygote 100% (8 of 8)
Cerebral cortex N/A heterozygote 100% (8 of 8)
Eye N/A heterozygote 0.0% (0 of 8)
Gall bladder N/A heterozygote 25% (2 of 8)
Heart N/A heterozygote 100% (8 of 8)
Hippocampus N/A heterozygote 100% (8 of 8)
Hypothalamus N/A heterozygote 100% (8 of 8)
Kidney N/A heterozygote 100% (8 of 8)
Large intestine N/A heterozygote 37.5% (3 of 8)
Liver N/A heterozygote 0.0% (0 of 8)
Lower urinary tract N/A heterozygote 100% (8 of 8)
Lung N/A heterozygote 25% (2 of 8)
Lymph node N/A heterozygote 25% (2 of 8)
Mammary gland N/A heterozygote 0.0% (0 of 8)
Esophagus N/A heterozygote 25% (2 of 8)
Olfactory lobe N/A heterozygote 100% (8 of 8)
Ovary N/A heterozygote 50% (4 of 8)
Oviduct N/A heterozygote 50% (4 of 8)
Pancreas N/A heterozygote 50% (4 of 8)
Parathyroid gland N/A heterozygote 87.5% (7 of 8)
Peripheral nervous system N/A heterozygote 100% (8 of 8)
Peyer's patch N/A heterozygote 0.0% (0 of 8)
Pituitary gland N/A heterozygote 87.5% (7 of 8)
Prostate gland N/A heterozygote 0.0% (0 of 8)
Skeletal muscle tissue N/A heterozygote 25% (2 of 8)
Skin N/A heterozygote 0.0% (0 of 8)
Small intestine N/A heterozygote 50% (4 of 8)
Spinal cord N/A heterozygote 100% (8 of 8)
Spleen N/A heterozygote 12.5% (1 of 8)
Stomach N/A heterozygote 100% (8 of 8)
Striatum N/A heterozygote 100% (8 of 8)
Testis N/A heterozygote 50% (4 of 8)
Thymus N/A heterozygote 25% (2 of 8)
Thyroid gland N/A heterozygote 25% (2 of 8)
Trachea N/A heterozygote 100% (8 of 8)
Uterus N/A heterozygote 0.0% (0 of 8)
White adipose tissue N/A heterozygote 0.0% (0 of 8)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

27 Images

X-ray

XRay Images Forepaw

27 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

26 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Selenok 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 Selenok by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 86
BCGitis, Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Severe varicella zoster infection, Defective T ce... OMIM:615897
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Mental Retardation, X-Linked 82
Scoliosis, EEG abnormality, Kyphosis OMIM:300518
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, B lymphocytopenia, Severe varicella zoster infection, Neutropenia, Pancytopenia, Leukopen... OMIM:618986
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Scoliosis, Facial... OMIM:601382
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive OMIM:617718
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections, Neutropenia OMIM:615214
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Galactosialidosis
Abnormality of the vertebral column, Hearing impairment, Abnormal vertebral morphology ORPHA:351
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... ORPHA:398063
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... OMIM:614493
Hypomagnesemia 2, Renal
Hypomagnesemia, Chondrocalcinosis, Hypokalemia OMIM:154020
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis OMIM:266265
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, Recurrent otitis ... ORPHA:277
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Lack of T cell function, Neutropen... ORPHA:572
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Immunodeficiency 20
BCGitis, Severe varicella zoster infection, Recurrent oral herpes, Recurrent viral upper respirat... OMIM:615707
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Obesity ORPHA:34527
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... ORPHA:90362
Spondylosis, Cervical
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Anemia, Hypocalcemia OMIM:244460
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Chronic neutropenia, Macrocytic anemia, Neutropenia, Panc... ORPHA:811
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas OMIM:145981
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... ORPHA:540
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233710
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Colchicine Poisoning
Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:306400
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... OMIM:308230
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal abscess, Hepatosplenomegaly,... OMIM:618935
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Elevated circulating C-reactive protein concent... ORPHA:158061
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Hypouricemia, Recurrent opportunistic infections, Impaired T cell... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... ORPHA:331206
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... ORPHA:94093
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia ORPHA:199343
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Neutropenia, Decreased prealbumin level, Neutropenia in p... ORPHA:37042
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Sepsis, Leukocytosis, Thrombocytosis, BCGosis, Polycythemia, Recu... ORPHA:2968
Thymic Aplasia
Sepsis, Recurrent infections, Recurrent candida infections, Oligoclonal T cell expansion, Hypocal... ORPHA:83471
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... ORPHA:3132
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Recurrent infections, Abnormal dense granules, Giant neutrophil granules... OMIM:214500
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Ch├ędiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Increased circulatin... ORPHA:167
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Increased circu... ORPHA:178320
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas OMIM:600740
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Failure to thrive, Hypomagnesemia, Increased circulating renin level OMIM:263800
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hypomagnesemia, Abnormal circulating biopterin conc... ORPHA:1578
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Lipoma, Renal h... ORPHA:405
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:612780
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Pearson Syndrome
Neutropenia, Small for gestational age, Hypokalemia, Anemia, Hypophosphatemia, Splenomegaly, Hypo... ORPHA:699
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Weight loss, Mildly elevated creatine kinase, Hypomagnesemia,... ORPHA:79102
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Chondrocalcinosis, Small for gestational age, Hypokalemia, Failure to thrive, Incr... OMIM:601678
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia, Amelogenesis imperfecta OMIM:248190
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... OMIM:242700
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abno... ORPHA:70578
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Small for gestational age, Hypokalemia, Failure to thrive, Increased serum pro... OMIM:241200
Hypomagnesemia 3, Renal
Failure to thrive, Hyperuricemia, Hypomagnesemia OMIM:248250
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, R... ORPHA:3243
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Recurrent candida infections, Impaired T cell function OMIM:201100
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Iron deficiency anemia, Failure to thrive, Hypomagnesemia, Hypoca... ORPHA:358
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia ORPHA:73224
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Small for gestational age, Hypokalemia, Failure to thrive, Hypochloremia, Hypomagne... ORPHA:89938
Acrocraniofacial Dysostosis
Abnormality of the vertebral column, Conductive hearing impairment, Abnormal auditory evoked pote... OMIM:201050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Biconcave vertebral bodies, Optic disc pallor, Abnormal auditory evoked potentials, Os odontoideu... OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Abnormal auditory evoked potentials, Sensorineural hearing i... OMIM:109120
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Immunodeficiency 58
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... OMIM:618131
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Cutaneou... OMIM:242840
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Impaired T cell function, Elevated circulating creatine kinase concen... OMIM:614576
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... OMIM:618213
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Kyphoscoliosis, Hearing impairment, Short neck, Spina bifida... OMIM:193700
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Inguinal hernia, Camptodactyly OMIM:616737
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Small for gestat... ORPHA:84064
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation, Hypertriglyceridemia, ... ORPHA:66628
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Failure to thrive, Reduced subcutaneous adipose tissue, Arthrogryposis multiplex... OMIM:619503
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation, Hypertriglyceridemia, ... ORPHA:179494
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... OMIM:607330
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Impaired T cell function,... ORPHA:1830
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Mastocytosis
Hypercalcemia, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Flexion contracture, Camptodactyly, Thrombocytopenia, Inguinal he... ORPHA:487796
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Macrotia, Hearing impairment, Abnormality of ... ORPHA:90321
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Hemivertebrae, Macrotia, Posteriorly rotate... ORPHA:171929
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Mogs-Cdg
Sensorineural hearing impairment, Thoracic scoliosis, Absent brainstem auditory responses, Optic ... ORPHA:79330
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... ORPHA:542323
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Velocardiofacial Syndrome
Recurrent infections, Hypocalcemia, Impaired T cell function OMIM:192430
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Kyphosis ORPHA:401973
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Pmm2-Cdg
Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia ORPHA:2237
Myhre Syndrome
Vertebral fusion, Platyspondyly, Hearing impairment, Enlarged vertebral pedicles, Microtia, Short... OMIM:139210
Osteogenesis Imperfecta
Biconcave vertebral bodies, Progressive hearing impairment, Abnormal form of the vertebral bodies... ORPHA:666
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly OMIM:181000
Digeorge Syndrome
Recurrent infections, Hypocalcemia, Impaired T cell function OMIM:188400
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Hypocalcemia, Thrombocytopenia ORPHA:567

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 Selenok

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 Selenok.

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

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MGI Allele Allele Type Produced
Selenoktm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Selenoktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Selenoktm44541(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Selenoktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Selenoktm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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