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Gene: Dyrk1a MGI:1330299

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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 phosphorylation regulated kinase 1a
Synonyms:
2310043O08Rik,  D16Ertd493e,  D16Ertd272e,  Mnbh,  Dyrk

Order Alleles

IMPC Data Collections

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

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.

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
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive in infa... OMIM:614104
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Seizure, Abnormal brainstem morphology, Attention deficit hyperactivity disord... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Cerebral cortical atrophy, Hypoplasia of the brainstem, Failure to thrive ... ORPHA:268261

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Abnormal brainstem morphology, Myoclonus, Focal-onset seizure, Irrit... ORPHA:2382
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Abnormal emotion, Reduced social reciprocity, Motor deterioration,... ORPHA:168782
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Molar tooth sig... ORPHA:166024
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Abnormal corpus callosum morphology, Hypoplasia of the pons, Abnorm... ORPHA:280195
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Coach Syndrome 2
Hepatic fibrosis, Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concent... OMIM:619111
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Joubert Syndrome 36
Molar tooth sign on MRI, Macrocephaly OMIM:618763
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Joubert Syndrome 32
Polymicrogyria, Hypertrophic cardiomyopathy, Large for gestational age, Abnormal cerebellum morph... OMIM:617757
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Joubert Syndrome 30
Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MRI, Superio... OMIM:617622
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Slc35A2-Cdg
Abnormal midbrain morphology, Elevated circulating hepatic transaminase concentration, Cerebellar... ORPHA:356961
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Seizure, Confusion, Myoclonus, Ataxia, Dementia, Semantic dementia, Abnormal s... ORPHA:1020
Joubert Syndrome 18
Ventricular septal defect, Agenesis of corpus callosum, Intrahepatic biliary atresia, Molar tooth... OMIM:614815
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Partial agenesis of the corpus callosum, Lateral ventricle dilatation ORPHA:300570
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Adult Krabbe Disease
Abnormal midbrain morphology, Mental deterioration, Broad-based gait, Abnormal medulla oblongata ... ORPHA:206448
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Obesity, Decreased body weight, Microcephaly, Molar tooth sign on M... OMIM:300804
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Agenesis of corpus callosum ORPHA:370959
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Elongated superior cerebellar peduncl... OMIM:608629
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Ventricular septal defect, Microcephaly, Atrial septal defect,... OMIM:611134
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Joubert Syndrome 33
Splenomegaly, Molar tooth sign on MRI, Macrocephaly OMIM:617767
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:617562
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Hepatic fibrosis, Hypoplasia of the brainstem, Dilated fourth ventr... OMIM:610688
Joubert Syndrome 22
Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of the corpus callosum, Mola... OMIM:615665
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (... ORPHA:64280
Hydrolethalus Syndrome 2
Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology ORPHA:2959
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology ORPHA:79139
Al-Gazali-Bakalinova Syndrome
Macrocephaly, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus call... OMIM:607131
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI OMIM:614465
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Obesity, Hypoplasia of the corpus callosum, Molar tooth sign on MRI... OMIM:619185
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Dilated fourth ventricle, Cerebellar hypoplasia, Molar ... OMIM:614175
Leigh Syndrome
Abnormal thalamic MRI signal intensity, Agenesis of corpus callosum ORPHA:506
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary microcepha... OMIM:619306
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity ORPHA:485421
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Coach Syndrome 3
Portal fibrosis, Molar tooth sign on MRI OMIM:619113
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Joubert Syndrome 27
Gait ataxia, Molar tooth sign on MRI, Ataxia OMIM:617120
Joubert Syndrome 7
Abnormal corpus callosum morphology, Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of ... OMIM:611560
Joubert Syndrome 20
Inability to walk, Molar tooth sign on MRI OMIM:614970
Coach Syndrome 1
Cerebellar vermis hypoplasia, Hepatic fibrosis, Elevated circulating hepatic transaminase concent... OMIM:216360
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Fail... ORPHA:444072
Joubert Syndrome 9
Hepatic fibrosis, Molar tooth sign on MRI OMIM:612285
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Seizure, Progressive psychomotor deterioration, Difficulty walking... ORPHA:309271
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Hydranencephaly
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema ORPHA:2177
Joubert Syndrome 2
Abnormal corpus callosum morphology, Dysgenesis of the cerebellar vermis, Failure to thrive, Hypo... OMIM:608091
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Elevated circulating hepatic t... ORPHA:397715
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Hypoplasia of olfactory tract, Decreased body weight, Agenesis of c... ORPHA:314621
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Meningioma
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin... ORPHA:2495
Holoprosencephaly 7
Panhypopituitarism, Partial agenesis of the corpus callosum, Fusion of the left and right thalami... OMIM:610828
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MR... ORPHA:220493
Joubert Syndrome 39
Hypoplastic left heart, Cerebellar vermis hypoplasia, Overweight, Molar tooth sign on MRI OMIM:619562
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Hepatic fibrosis, Dysgenesis of the cerebellar vermis, Hypoplasia o... OMIM:213300
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Seizure, Confusion, Irritabi... ORPHA:68
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity, Molar tooth sign on MRI OMIM:612291
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MR... ORPHA:220497
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ven... OMIM:614424
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum OMIM:618929
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,... ORPHA:54595
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Biparietal narrowing, Molar tooth sign on MRI, Aplasia/Hypoplasia o... ORPHA:2318
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Cerebellar vermis hypoplasia, Failure to thrive, Polymicrogyria, Agenesis... OMIM:277170
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Failure to thrive, Aplasia/Hypoplasia of the corpus callosum, Abnor... ORPHA:2754
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Intellectual Developmental Disorder, Autosomal Dominant 7
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive in infa... OMIM:614104
Arima Syndrome
Cerebellar vermis hypoplasia, Hepatic fibrosis, Hypoplasia of the brainstem, Brainstem dysplasia,... OMIM:243910
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Orofaciodigital Syndrome Xvi
Inability to walk, Molar tooth sign on MRI, Ataxia OMIM:617563
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:616546
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypoplasia of the corpus callosum, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatat... OMIM:619479
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Cerebral hypoplasia, Chiari malformat... OMIM:249000
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619476
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cerebellar hypoplasia, Molar tooth sign on MRI, Stillbirth, Relative macrocephaly, Dandy-Walker m... OMIM:616300
Orofaciodigital Syndrome Type 14
Open operculum, Dilated fourth ventricle, Hypoplasia of the corpus callosum, Ventricular septal d... ORPHA:434179
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Depression, Seizure, Obesity, Emotional lability, Reduced social re... ORPHA:293987
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Ventricular sept... OMIM:615948
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Joubert Syndrome 5
Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Thickened superior ce... OMIM:610188
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Face of the giant panda sign, Elevated c... OMIM:277900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Seizure, Abnormal brainstem morphology, Attention deficit hyperactivity disord... ORPHA:464311
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Williams Syndrome
Abnormality of the diencephalon ORPHA:904
Norrie Disease
Abnormality of the diencephalon ORPHA:649
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Cerebral cortical atrophy, Hypoplasia of the brainstem, Failure to thrive ... 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.

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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

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