Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a
Synonyms:
2310043O08Rik,  D16Ertd493e,  D16Ertd272e,  Mnbh,  Dyrk

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Dyrk1a 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 Dyrk1a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 7
Microcephaly, Small for gestational age, Cerebral cortical atrophy, Failure to thrive in infancy OMIM:614104
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Abnormal brainstem morphology, Posterior pituitary hypoplasia, Anxiety... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Small for gestational age, Failure to thrive in infancy, Posterior pituitary hypo... ORPHA:268261

The table below shows human diseases predicted to be associated to Dyrk1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology OMIM:613724
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Cerebral cortical atrophy, Hyp... OMIM:619072
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Abnormality of the anterior commissure, Fusion of the left and right... OMIM:617542
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Abnormal brainstem morphology, Generalized myoclonic se... ORPHA:2382
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal corpus callosum morphology, Rhombencephalosynapsis, Abnormal... ORPHA:280195
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI, Cognitive impairment, Hypoplasia of the corpus callosum OMIM:617761
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Abnormality of thalamus morphology, Focal white matter lesions ORPHA:557003
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Hypoplasia of the corpus ... ORPHA:166024
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of the basal ganglia, Primary microcephaly, Hypoplasia of the olfactory bulb, Small b... ORPHA:300570
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Anxiety, Dementia, Motor deteri... ORPHA:168782
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Abnormal social behavior, Complex febrile seizure, Anxi... ORPHA:101039
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormality of thalamus morphology, Abnormal putamen morphology ORPHA:88619
Joubert Syndrome 32
Large for gestational age, Molar tooth sign on MRI, Hypertrophic cardiomyopathy, Abnormal cerebel... OMIM:617757
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Neuroferritinopathy
Abnormality of the basal ganglia, Abnormal caudate nucleus morphology, Caudate atrophy, Iron accu... ORPHA:157846
Joubert Syndrome 4
Cognitive impairment, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Ataxia, El... OMIM:609583
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Coach Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Congenital hepatic fibrosis, Portal fibrosi... OMIM:619111
Joubert Syndrome 36
Macrocephaly, Molar tooth sign on MRI OMIM:618763
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Abnormal basa... ORPHA:363558
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Increased circulat... ORPHA:95512
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morp... ORPHA:79264
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Cach Syndrome
Cerebral atrophy, T2 hypointense thalamus, Dysgyria, Microcephaly, Dilation of lateral ventricles ORPHA:135
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal globus pallidus morphology, ... ORPHA:70474
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Neurofibrillary tangles, Memory impairment, Abnormal social behavior, Dementia... ORPHA:1020
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Abnormal midbrain morphology, Ment... ORPHA:206448
Joubert Syndrome 10
Macrocephaly, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Slc35A2-Cdg
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Tetralogy of ... ORPHA:356961
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Microcephaly, Decreased thalamic volume, Type II lissencephaly, Poly... ORPHA:370959
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Hypoplastic hippocampus, Primary microcepha... ORPHA:2177
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology, Hypoplasia of ... ORPHA:254930
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Meckel Syndrome, Type 4
Bile duct proliferation, Atrial septal defect, Anencephaly, Molar tooth sign on MRI, Microcephaly... OMIM:611134
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity, Secondary mi... ORPHA:485421
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcephaly, Abnormality of thalamus morphology ORPHA:2959
Japanese Encephalitis
Cerebral edema, Abnormal caudate nucleus morphology, Abnormal substantia nigra morphology, Abnorm... ORPHA:79139
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormality of the basal ganglia, Hypointensity of cerebral white matter on MRI, ... ORPHA:83597
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI, Temporal cortical atrophy, Hypoplasia of ... OMIM:615665
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia ORPHA:59315
Al-Gazali-Bakalinova Syndrome
Macrocephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum OMIM:614120
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Agenesis of corpus callosum, Porencephalic cyst, Polymicrog... OMIM:156810
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:617562
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Hyperintensity of cerebral white matter on MRI, Cerebral atrophy, T2 hypointense thalamus ORPHA:1947
Joubert Syndrome 30
Dandy-Walker malformation, Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dyspl... OMIM:617622
Leigh Syndrome
Agenesis of corpus callosum, Encephalomalacia, Diffuse spongiform leukoencephalopathy, Focal T2 h... ORPHA:506
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Hypoplasia of the corpus callosum, Accessory spleen, Dilate... OMIM:619306
Joubert Syndrome 37
Molar tooth sign on MRI, Obesity, Hepatomegaly, Hypoplasia of the corpus callosum, Cerebellar ver... OMIM:619185
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Hypothalamic hamartoma, Failure to thrive, Cerebellar vermis hypoplasia OMIM:277170
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Abnormal corpus callosum morphology, Molar toot... OMIM:611560
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology ORPHA:48818
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia OMIM:617120
Joubert Syndrome 18
Molar tooth sign on MRI, Ventricular septal defect OMIM:614815
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Bile duct proliferation, Cerebellar vermis hypoplasia, Mo... OMIM:610688
Joubert Syndrome 20
Molar tooth sign on MRI, Self-mutilation, Aggressive behavior OMIM:614970
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI OMIM:614465
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Hereditary Cryohydrocytosis With Reduced Stomatin
Microcephaly, Decreased thalamic volume, Cerebral white matter hypoplasia, Intracerebral perivent... ORPHA:168577
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly OMIM:614175
Cerebellar-Facial-Dental Syndrome
Cerebellar hypoplasia, Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Micro... ORPHA:444072
Joubert Syndrome 2
Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle, Molar tooth sign on ... OMIM:608091
Coach Syndrome 3
Molar tooth sign on MRI, Portal fibrosis OMIM:619113
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Hypointensity of cerebral white matter on MRI ORPHA:845
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Decreased body weight, Agenesis of corpus callosum, Abnormal mi... ORPHA:314621
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Thalamic hemorrhage ORPHA:464321
Meningioma
Focal T2 hypointense thalamic lesion, Neoplasm of the posterior pituitary, Increased circulating ... ORPHA:2495
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Cerebral edema, Abnormal pons morphology, Abnormality of the ba... ORPHA:68
Coach Syndrome 1
Portal hypertension, Molar tooth sign on MRI, Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of t... OMIM:216360
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Joubert Syndrome 9
Molar tooth sign on MRI, Hepatic fibrosis OMIM:612285
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Cerebellar h... ORPHA:397715
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypopituita... ORPHA:54595
Joubert Syndrome 17
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Hypothalami... ORPHA:2822
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Micro... OMIM:213300
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Agenesis of corpus callosum, Molar tooth sign on MRI, Dextrocardia, Polymic... ORPHA:220493
Joubert Syndrome With Renal Defect
Biparietal narrowing, Agenesis of corpus callosum, Molar tooth sign on MRI, Polymicrogyria, Cereb... ORPHA:220497
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Joubert Syndrome 8
Prolonged neonatal jaundice, Molar tooth sign on MRI, Obesity, Hepatomegaly OMIM:612291
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Dysmetria, Memory impairment, Abnormal social behavior, Hypoplastic h... ORPHA:314647
Joubert Syndrome 39
Hypoplastic left heart, Molar tooth sign on MRI, Overweight, Cerebellar vermis hypoplasia OMIM:619562
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Arima Syndrome
Hepatic steatosis, Dilated fourth ventricle, Molar tooth sign on MRI, Hepatomegaly, Hypoplasia of... OMIM:243910
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Biparietal narrowing, Molar tooth sign on MRI, Cerebel... ORPHA:2318
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Orofaciodigital Syndrome Type 6
Biparietal narrowing, Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Molar to... ORPHA:2754
Joubert Syndrome 38
Small pituitary gland, Molar tooth sign on MRI, Decreased response to growth hormone stimulation ... OMIM:619476
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Impaired social interactions, Abnormal midbr... ORPHA:293987
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Molar tooth sign on MRI, Anencephaly, Polymicrogyria, Cerebellar vermis hyp... OMIM:616546
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Ataxia OMIM:617563
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon OMIM:601374
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Hypoplasia o... OMIM:619479
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on MRI, Open operculum, Micro... ORPHA:434179
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cerebellar hypoplasia, Relative macrocephaly, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:616300
Joubert Syndrome 5
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Molar tooth sign on M... OMIM:610188
Intellectual Developmental Disorder, Autosomal Dominant 7
Microcephaly, Small for gestational age, Cerebral cortical atrophy, Failure to thrive in infancy OMIM:614104
Orofaciodigital Syndrome Xiv
Cerebellar hypoplasia, Atrial septal defect, Molar tooth sign on MRI, Microcephaly, Simplified gy... OMIM:615948
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Abnormal brainstem morphology, Posterior pituitary hypoplasia, Anxiety... ORPHA:464311
Williams Syndrome
Microcephaly, Cerebral cortical atrophy, Abnormality of the diencephalon ORPHA:904
Norrie Disease
Microcephaly, Cerebral cortical atrophy, Abnormality of the diencephalon ORPHA:649
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Small for gestational age, Failure to thrive in infancy, Posterior pituitary hypo... ORPHA:268261

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 Dyrk1a

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 Dyrk1a.

No publications found that use IMPC mice or data for Dyrk1a.

Order Mouse and ES Cells

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Dyrk1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dyrk1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter