Gene Summary

Name:
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b
Synonyms:
Mirk

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 total retina thickness Dyrk1btm1b(EUCOMM)Wtsi HET Late adult 6.85×10-15
decreased startle reflex Dyrk1btm1b(EUCOMM)Wtsi HET Early adult 6.32×10-05
decreased lymphocyte cell number Dyrk1btm1b(EUCOMM)Wtsi HET   Early adult 9.12×10-05
decreased total retina thickness Dyrk1btm1b(EUCOMM)Wtsi HET Early adult 3.30×10-10
abnormal auditory brainstem response Dyrk1btm1b(EUCOMM)Wtsi HET   Early adult 8.84×10-08
preweaning lethality, complete penetrance Dyrk1btm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal retina inner nuclear layer morphology Dyrk1btm1b(EUCOMM)Wtsi HET Late adult 6.50×10-12
decreased locomotor activity Dyrk1btm1b(EUCOMM)Wtsi HET   Late adult 1.75×10-05
abnormal retina inner nuclear layer morphology Dyrk1btm1b(EUCOMM)Wtsi HET Early adult 1.21×10-09
decreased bone mineral density Dyrk1btm1b(EUCOMM)Wtsi HET Late adult 4.14×10-05
increased prepulse inhibition Dyrk1btm1b(EUCOMM)Wtsi HET   Early adult 2.14×10-05
decreased large unstained cell number Dyrk1btm1b(EUCOMM)Wtsi HET   Early adult 7.55×10-07
decreased blood urea nitrogen level Dyrk1btm1b(EUCOMM)Wtsi HET   Early adult 2.88×10-05

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 Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Dyrk1b 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 Dyrk1b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Abdominal Obesity-Metabolic Syndrome 3
OMIM:615812

The table below shows human diseases predicted to be associated to Dyrk1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 8
Lymphopenia OMIM:615401
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Aganglionic megacolon, Heari... OMIM:600501
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Immunodeficiency 19
Lymphopenia OMIM:615617
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density, Optic atrop... OMIM:239100
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Generalized dystonia, Focal dystonia, P... ORPHA:52368
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphop... ORPHA:444463
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Sensorineural hearing impairment, Geographic atrophy, Abnormal auditory evo... OMIM:619260
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased proportion... OMIM:617514
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hyp... ORPHA:3240
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia ORPHA:1116
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Pigmentary retinopathy, Anemia, Macrotia, Abnormality of periphera... ORPHA:90321
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Sneddon Syndrome
Facial palsy, Lymphopenia, Tremor OMIM:182410
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Action tremor... ORPHA:99027
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Decreased ner... ORPHA:101085
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Infantile Krabbe Disease
Cherry red spot of the macula, Opisthotonus, Decreased nerve conduction velocity, Prolonged brain... ORPHA:206436
Mogs-Cdg
Hepatosplenomegaly, Dystonia, Sensorineural hearing impairment, Absent brainstem auditory respons... ORPHA:79330
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529799
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Sensorineural hearing impairment, Autoimmune thromb... ORPHA:760
Ataxia-Telangiectasia
Lymphopenia, Tremor ORPHA:100
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cockayne Syndrome A
Sensorineural hearing impairment, Splenomegaly, Decreased nerve conduction velocity, Retinal atro... OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Dystonia, Resting tremor, Optic neuropathy, Decre... ORPHA:909
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Cutane... ORPHA:443811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Dystonia, Exaggerated startle response ORPHA:309246
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic n... OMIM:609136
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia OMIM:605309
Immunodeficiency 49
Eosinophilia, Lymphopenia, Posteriorly rotated ears OMIM:617237
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cockayne Syndrome B
Sensorineural hearing impairment, Splenomegaly, Decreased nerve conduction velocity, Abnormal aud... OMIM:133540
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dystonia, Intention tremor, Head titubation, Lymphopenia, Optic atrophy OMIM:619708
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Hepatosplenomegaly, Exaggerated startle r... OMIM:268800
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Macrotia ORPHA:391307
Trichothiodystrophy 3, Photosensitive
Neutropenia, Low-set ears, Lymphopenia, Hearing impairment OMIM:616395
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Splenomegaly, Abscess, Granuloma, Hemolytic anemia, Perianal abscess, Impaire... OMIM:618935
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Cowden Syndrome 1
Angioid streaks of the fundus, Lymphopenia, Hearing impairment, Intention tremor OMIM:158350
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Asparagine Synthetase Deficiency
Macrotia, Hypsarrhythmia, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Retinal dysplasia, Optic atrophy, Exaggerated startle response OMIM:253800
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Aganglionic megacolon, Impaired lymphocyte transformation with phy... OMIM:250250
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Lymphopenia OMIM:617575
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Low-set ears ORPHA:2268
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absen... OMIM:600802
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Lymphope... ORPHA:508542
Ataxia-Telangiectasia
T lymphocytopenia, Dystonia, Leukemia, Decreased proportion of CD4-positive helper T cells, Hypop... OMIM:208900
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... ORPHA:521426
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Hepatosplenomegaly, Low-set ears, Macrotia, Exaggerated startle re... ORPHA:79255
Tay-Sachs Disease
Cherry red spot of the macula, Dystonia, Laryngeal dystonia, Exaggerated startle response, Optic ... ORPHA:845
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Immunodeficiency 23
Eosinophilia, Conductive hearing impairment, Sensorineural hearing impairment, Abscess, Neutropen... OMIM:615816
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Impaired lymphocyte transform... ORPHA:35078
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Fusariosis
Abnormal retinal morphology, Lung abscess, Neutropenia, Granuloma, Abnormality of the spleen, Lym... ORPHA:228119
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased proportion of CD3-positive ... ORPHA:90362
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia,... OMIM:615688
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617527
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... ORPHA:3261
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Dystonia, Exaggerated startle response ORPHA:438216
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Low-set ears, Autoimmune thrombocytopenia, Neutropenia, Lymphopenia OMIM:607944
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Resting tremor, Thrombocytopenia, Lymphopenia ORPHA:319213
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Aganglionic megacolon, Lymphopenia ORPHA:935
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Splenomegaly ORPHA:1572
Primary Sjögren Syndrome
Optic neuritis, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cell... ORPHA:289390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... ORPHA:391487
Cushing Disease
Leukocytosis, Optic nerve compression, Decreased eosinophil count, Fatiguable weakness of proxima... ORPHA:96253
Whim Syndrome
Neutropenia, Abnormality of neutrophil morphology, Lymphopenia ORPHA:51636
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Optic disc pallor, Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, Exaggerated startle response OMIM:619522
Abdominal Obesity-Metabolic Syndrome 3
OMIM:615812

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 Dyrk1b

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 Dyrk1b.

No publications found that use IMPC mice or data for Dyrk1b.

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MGI Allele Allele Type Produced
Dyrk1btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dyrk1btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dyrk1btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Dyrk1btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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