DYRK1A dual specificity tyrosine-Y- phosphorylation regulated kinase 1A
Model Species
Mus musculusGene Aliases
mmb; Dyrk; Mnbh; Mp86; Gm10783; D16Ertd272e; D16Ertd493e; 2310043O08Rik; ENSMUSG00000074897Models / Rescue Models
-Rescue Model
-Model Summary
Dyrk1A mutants exhibit alterations in neuromotor development and learning and memory.
External Links
Reports related to DYRK1A (4 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's... | Altafaj X , et al. (2001) |
| 2 | Primary | Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. | Fotaki V , et al. (2002) |
| 3 | Additional | Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome. | Arranz J , et al. (2019) |
| 4 | Primary | Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome | Pijuan I et al. (2022) |
Show all Construct Details
Show all Phenotypic Profiles
M_DYRK1A_1_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
A targeting vector was constructed with homology (5') to 3.6 kb of exon 6 and 2.1 kb of exon 8 (3'), containing PGKneobpA cassette and PGKtk cassette. This construct was linearized and electroporated into E14.1 cells.
Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6*129
Es cell line: E14.1
Model Source: Maria Arbones lab (PMID 12192061)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Motor phenotype | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Neurophysiology | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Repetitive behavior | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Seizure | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Sensory | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Social behavior | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Physiological parameters | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Communications | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Developmental profile | Size/growth | Decreased | General observations | E9.5, e10.5, e11.5 | Fotaki V , et al. (2002) |
| Developmental profile | Mortality/lethality | Increased | NA | E9.5-e10 | Fotaki V , et al. (2002) |
| Emotion | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Immune response | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Learning & memory | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Maternal behavior | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Molecular profile | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
M_DYRK1A_1_TG_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Transgenic mice were generated using Dyrk1A full length cDNA into male pronuclei. The cDNA is under the sheep promoter for metallothione IA.
Allele Type: Transgenic
Strain of Origin: C57BL6/SJL
Genetic Background: C57BL6/SJL
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Circadian rhythm | No change | Home cage behavior | 4 months | Altafaj X , et al. (2001) |
| Motor phenotype | Motor coordination and balance | Decreased | Wire hang test | P14 | Altafaj X , et al. (2001) |
| Motor phenotype | Motor coordination and balance | Decreased | Wire hang test | 4 months | Altafaj X , et al. (2001) |
| Motor phenotype | Hyperactivity | Increased | Open field test | 4 months | Altafaj X , et al. (2001) |
| Motor phenotype | Hyperactivity | Increased | Elevated plus maze test | 4 months | Altafaj X , et al. (2001) |
| Motor phenotype | Gait | Decreased | Pivoting test | P7, p10, p14 | Altafaj X , et al. (2001) |
| Motor phenotype | Gait | Decreased | Homing test | P7, p10, p14 | Altafaj X , et al. (2001) |
| Motor phenotype | Gait | Decreased | Gait | P7, p10, p14 | Altafaj X , et al. (2001) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Neurophysiology | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Repetitive behavior | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Seizure | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Sensory | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Social behavior | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Physiological parameters | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Communications | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Developmental profile | Reproductive system development | No change | General observations | P7, p10, p14 | Altafaj X , et al. (2001) |
| Developmental profile | Developmental trajectory | No change | NA | P7, p10, p14 | Altafaj X , et al. (2001) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 4 months | Altafaj X , et al. (2001) |
| Immune response | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Learning & memory | Spatial reference memory | No change | NA | Unreported | Altafaj X , et al. (2001) |
| Learning & memory | Spatial reference memory | Decreased | NA | Unreported | Altafaj X , et al. (2001) |
| Learning & memory | Spatial reference memory | No change | Morris water maze test | 4 months | Altafaj X , et al. (2001) |
| Learning & memory | Cognitive flexibility | Decreased | Morris water maze test | Unreported | Altafaj X , et al. (2001) |
| Maternal behavior | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
| Molecular profile | NA | Not reported | NA | NA | Altafaj X , et al. (2001) |
M_DYRK1A_2_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
A targeting vector was constructed with homology (5') to 3.6 kb of exon 6 and 2.1 kb of exon 8 (3'), containing PGKneobpA cassette and PGKtk cassette. This construct was linearized and electroporated into E14.1 cells.
Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6*129
Es cell line: E14.1
Model Source: Maria Arbones lab (PMID 12192061)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Category | Myelination: Node of Ranvier morphology | Abnormal | Immunohistochemistry | 2 months | Pijuan I et al. (2022) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Motor phenotype | Self grooming: artificial stress evoked | Increased | Resident-intruder test | 4-6 months | Arranz J , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Marble-burying test | 4-6 months | Arranz J , et al. (2019) |
| Motor phenotype | Righting response | Decreased | General observations | Unreported | Fotaki V , et al. (2002) |
| Motor phenotype | Grip strength | No change | NA | Unreported | Fotaki V , et al. (2002) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Number of oligodendrocytes | No change | Immunohistochemistry | 2 months | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Number of oligodendrocytes | Decreased | Immunohistochemistry | E15.5, E17.5, P0, P7 | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal morphology: axonal structure | Abnormal | Electron microscopy | 2 months | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Myelination | No change | Electron microscopy | P19 | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Myelination | Increased | Electron microscopy | 2 months | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Myelination | Decreased | G-ratio measurement (axon diameters/fiber diameters of myelinated axons) | P19 | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Myelination | No change | G-ratio measurement (axon diameters/fiber diameters of myelinated axons) | 2 months | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Microglial number | No change | Immunohistochemistry | 2 months | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cell proliferation: neural precursors | Increased | Immunohistochemistry | E17.5 | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Astrocyte number | Increased | Immunohistochemistry | P5, P7 | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Astrocyte number | Increased | Immunohistochemistry | 2 months | Pijuan I et al. (2022) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synapse density: inhibitory | No change | Immunohistochemistry | Adult | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synapse density: excitatory | Increased | Immunocytochemistry | Adult | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: inhibitory neurons | Increased | Immunohistochemistry | Adult | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: excitatory neurons | Increased | Immunohistochemistry | Adult | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number | Increased | Immunohistochemistry | P7 | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal migration | No change | Immunohistochemistry | P7 | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal differentiation | Abnormal | Immunohistochemistry | P7 | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cortical thickness | Decreased | Immunohistochemistry | P7 | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cell proliferation: neural precursors | Increased | Immunohistochemistry | P7 | Arranz J , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | NA | Adult | Fotaki V , et al. (2002) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Histology | Adult | Fotaki V , et al. (2002) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | No change | Immunohistochemistry | P14 | Fotaki V , et al. (2002) |
| Neurophysiology | Intrinsic membrane properties | Decreased | In vivo local field potential (LFP) recordings | 2 months | Pijuan I et al. (2022) |
| Neurophysiology | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Repetitive behavior | Self grooming: perseveration | Increased | Marble-burying test | 4-6 months | Arranz J , et al. (2019) |
| Repetitive behavior | Repetitive digging | Increased | Resident-intruder test | 4-6 months | Arranz J , et al. (2019) |
| Repetitive behavior | Repetitive digging | Decreased | Marble-burying test | 4-6 months | Arranz J , et al. (2019) |
| Repetitive behavior | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Seizure | Seizures | Increased | Electroencephalogram (eeg) | 5-6 months | Arranz J , et al. (2019) |
| Seizure | Electroencephalogram (eeg): signature of seizure/epilepsy | Increased | Electroencephalogram (eeg) | 5-6 months | Arranz J , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Sensory | Vision | No change | Forepaw reaching test | Unreported | Fotaki V , et al. (2002) |
| Sensory | Touch | No change | NA | Unreported | Fotaki V , et al. (2002) |
| Sensory | Startle response: acoustic stimulus | Decreased | NA | Unreported | Fotaki V , et al. (2002) |
| Social behavior | Social interaction | Decreased | Resident-intruder test | 4-6 months | Arranz J , et al. (2019) |
| Social behavior | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Physiological parameters | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Communications | Ultrasonic vocalization: isolation induced | Decreased | Monitoring ultrasonic vocalizations | P3, p6, p9, p12 | Arranz J , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Developmental profile | Size/growth | Decreased | General observations | E9.5, e10.5, e11.5, adult | Fotaki V , et al. (2002) |
| Developmental profile | Mortality/lethality | Increased | Genotypic ratio of progeny from heterozygous parents | 0-3 weeks | Fotaki V , et al. (2002) |
| Emotion | Anxiety | Increased | Marble-burying test | 4-6 months | Arranz J , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Immune response | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Learning & memory | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Maternal behavior | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
| Molecular profile | Protein expression level evidence | Increased | Western blot | 2 months | Pijuan I et al. (2022) |
| Molecular profile | Gene expression | No change | Quantitative PCR (qRT-PCR) | 2 months | Pijuan I et al. (2022) |
| Molecular profile | Cell differentiation | No change | Immunohistochemistry | P5 | Pijuan I et al. (2022) |
| Molecular profile | Targeted expression | Decreased | Quantitative pcr (qrt-pcr) | E11.5, e14.5, e16.5, p0, p7, 4 weeks | Arranz J , et al. (2019) |
| Molecular profile | Targeted expression | Decreased | Western blot | P0, p7 | Arranz J , et al. (2019) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | P0, p7 | Arranz J , et al. (2019) |
| Molecular profile | Gene expression | Abnormal | Gene expression microarray | P0, p7 | Arranz J , et al. (2019) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | P0, p7 | Arranz J , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Fotaki V , et al. (2002) |
CNVs associated with DYRK1A(1 Models)
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| 21q22.13 | 8 | Deletion-Duplication | 12 / 11 |