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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

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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
Small for gestational age, Failure to thrive in infancy, Ataxia, Seizure, Gait disturbance, Inapp... OMIM:614104
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Simple febrile seizure, Abnormal brainstem morphology, Seizure, Gait d... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal pulmonary valve morphology, Small for gestational age, Microc... 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
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormal brai... ORPHA:2382
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
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Molar tooth sign on MRI, Agene... ORPHA:166024
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Childhood Disintegrative Disorder
Social and occupational deterioration, Seizure, Dementia, Abnormal emotion, Progressive language ... ORPHA:168782
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
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p... ORPHA:280195
Coach Syndrome 2
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Portal ... OMIM:619111
Hsd10 Disease
Short attention span, Ataxia, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Abnormal soc... ORPHA:391417
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
Large for gestational age, Abnormal cerebellum morphology, Macrocephaly, Molar tooth sign on MRI,... OMIM:617757
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Macrocephaly OMIM:300804
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Seizure, Dementia, Semantic dementia, Myoclonus, Memory impairment, Abnormal s... ORPHA:1020
Slc35A2-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Cerebral white matter atrophy, Failure to thri... ORPHA:356961
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Abnormal thalamus morphology, Lateral ventricle dilatation ORPHA:300570
Joubert Syndrome 18
Agenesis of cerebellar vermis, Ventricular septal defect, Intrahepatic biliary atresia, Molar too... OMIM:614815
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Decreased thalamic volume ORPHA:370959
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Meckel Syndrome, Type 4
Atrial septal defect, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Ane... OMIM:611134
Joubert Syndrome 3
Atrial septal defect, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral ventricle dil... OMIM:608629
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Adult Krabbe Disease
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Pr... ORPHA:206448
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Joubert Syndrome 33
Molar tooth sign on MRI, Splenomegaly, Macrocephaly OMIM:617767
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Attention deficit hyperactiv... ORPHA:64280
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hepatic fibr... OMIM:610688
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum OMIM:614120
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of ... OMIM:615665
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology ORPHA:2959
Joubert Syndrome 31
Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:617761
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Macrocep... OMIM:607131
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology ORPHA:79139
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Joubert Syndrome 37
Hepatomegaly, Cerebellar vermis hypoplasia, Obesity, Hypoplasia of the corpus callosum, Molar too... OMIM:619185
Leigh Syndrome
Agenesis of corpus callosum, Abnormal thalamic MRI signal intensity ORPHA:506
Meckel Syndrome, Type 10
Dilated fourth ventricle, Malformation of the hepatic ductal plate, Anencephaly, Cerebellar hypop... OMIM:614175
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Ventricular septal defe... 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
Molar tooth sign on MRI, Portal fibrosis 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
Molar tooth sign on MRI, Ataxia, Gait ataxia OMIM:617120
Joubert Syndrome 20
Molar tooth sign on MRI, Inability to walk OMIM:614970
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Abnormal corpus callos... OMIM:611560
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Seiz... ORPHA:309271
Joubert Syndrome 9
Molar tooth sign on MRI, Hepatic fibrosis OMIM:612285
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Portal hypertension, A... OMIM:216360
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Cerebellar-Facial-Dental Syndrome
Failure to thrive, Ventricular septal defect, Abnormal midbrain morphology, Microcephaly, Hypopla... ORPHA:444072
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Seizure, Progressive gait ataxia, Em... ORPHA:309263
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal midbrain morphology, Abnormal ... ORPHA:68
Joubert Syndrome 2
Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenesis of th... OMIM:608091
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Absent septum pellucidum, Abnormal c... ORPHA:397715
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Microcephaly, Hypoplasia of olfactory tract, Decreased body weight,... ORPHA:314621
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Dextrocardia, Biparietal narrowing, Molar tooth sign on MRI, Polymi... ORPHA:220493
Joubert Syndrome 39
Molar tooth sign on MRI, Overweight, Cerebellar vermis hypoplasia, Hypoplastic left heart OMIM:619562
Holoprosencephaly 7
Fusion of the left and right thalami, Partial agenesis of the corpus callosum, Agenesis of corpus... OMIM:610828
Joubert Syndrome 8
Molar tooth sign on MRI, Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Microcephaly, H... OMIM:213300
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Biparietal narrowing, Molar tooth sign on MRI, Polymicrogyria, Agen... ORPHA:220497
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar vermis, Hypoplasi... 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
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... ORPHA:54595
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Biparietal narrowing, Aplasia/Hypoplasia o... ORPHA:2318
Orofaciodigital Syndrome Vi
Failure to thrive, Cerebellar vermis hypoplasia, Porencephalic cyst, Hypoplastic left heart, Mola... OMIM:277170
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Abnormal heart morpholog... ORPHA:2754
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Intellectual Developmental Disorder, Autosomal Dominant 7
Small for gestational age, Failure to thrive in infancy, Ataxia, Seizure, Gait disturbance, Inapp... OMIM:614104
Arima Syndrome
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... OMIM:243910
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Ataxia OMIM:617563
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Cerebellar vermis hypoplasia, Anencephaly, Hypoplasia of the brainstem, Hyp... OMIM:616546
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Meckel Syndrome, Type 1
Dilated fourth ventricle, Accessory spleen, Malformation of the hepatic ductal plate, Microcephal... OMIM:249000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Hypop... OMIM:619479
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Relative macrocephaly, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker m... OMIM:616300
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus... ORPHA:434179
Orofaciodigital Syndrome Xiv
Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Part... OMIM:615948
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Obesity, Depression, Seizure, Impaired social interactions, Emotion... ORPHA:293987
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Joubert Syndrome 5
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, A... OMIM:610188
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Simple febrile seizure, Abnormal brainstem morphology, Seizure, Gait d... 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
Ventricular septal defect, Abnormal pulmonary valve morphology, Small for gestational age, Microc... 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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