NBEA Neurobeachin
Model Species
Mus musculusGene Aliases
Lyst2; mKIAA1544; NbeaModels / Rescue Models
-Rescue Model
-Model Summary
Novel function of Nbea at central synapses that may be based on its presumed role in targeting membrane proteins to synaptic contacts, and are consistent with the 'excitatory-inhibitory imbalance' model of autism where Nbea gene rearrangements have been detected in some patients.
External Links
Reports related to NBEA (3 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses. | Medrihan L , et al. (2009) |
| 2 | Additional | Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic... | Nuytens K , et al. (2012) |
| 3 | Additional | Enhanced LTP of population spikes in the dentate gyrus of mice haploinsufficient for neurobeachin | Muellerleile J et al. (2020) |
Show all Construct Details
Show all Phenotypic Profiles
M_NBEA_1_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Gene trap knock-out of 385 bp of exon 6 of the Nbea gene.
Allele Type: Targeted (Knock-Out)
Strain of Origin: C57B1/6N
Genetic Background: Not Specified
Es cell line: RRK418
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Motor phenotype | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | Decreased | Electron microscopy | E18 | Medrihan L , et al. (2009) |
| Neurophysiology | Synaptic transmission | No change | Whole-cell patch clamp | E18 | Medrihan L , et al. (2009) |
| Neurophysiology | Synaptic transmission | Abnormal | Whole-cell patch clamp | E18 | Medrihan L , et al. (2009) |
| Neurophysiology | Synaptic transmission | Decreased | Whole-cell patch clamp | E18 | Medrihan L , et al. (2009) |
| Neurophysiology | Synaptic transmission | Decreased | Whole-cell patch clamp | E18 | Medrihan L , et al. (2009) |
| Repetitive behavior | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Seizure | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Sensory | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Social behavior | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Physiological parameters | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Communications | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Developmental profile | Mortality/lethality | Abnormal | General observations | Unreported | Medrihan L , et al. (2009) |
| Developmental profile | Cardiovascular development and function | No change | General observations | Unreported | Medrihan L , et al. (2009) |
| Emotion | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Immune response | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Learning & memory | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Maternal behavior | NA | Not reported | NA | NA | Medrihan L , et al. (2009) |
| Molecular profile | Protein expression level evidence | No change | Western blot | E18 | Medrihan L , et al. (2009) |
| Molecular profile | Protein expression level evidence | Decreased | Western blot | E18 | Medrihan L , et al. (2009) |
| Molecular profile | Protein expression level evidence | Decreased | Western blot | Unreported | Medrihan L , et al. (2009) |
| Molecular profile | Gene expression | Abnormal | Quantitative pcr (qrt-pcr) | Unreported | Medrihan L , et al. (2009) |
M_NBEA_2_GH240B_HT
Model Type: Genetic
Model Genotype: Heterozyous
Mutation:
GH240B transgene insertion in opposite orientation to intron 1 of Nbea gene, 3750 bp 3' to splice donor site.
Allele Type: Targeted (Transgene)
Strain of Origin: Not specified
Genetic Background: C57BL/6JRj
Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Nuytens K , et al. (2012) |
| Motor phenotype | Swimming ability | No change | Swim test | Unreported | Nuytens K , et al. (2012) |
| Motor phenotype | Self grooming: artificial stress evoked | Increased | Splash test to evoke grooming behavior | Unreported | Nuytens K , et al. (2012) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | Unreported | Nuytens K , et al. (2012) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Home cage behavior | Unreported | Nuytens K , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | General observations | 12 weeks | Nuytens K , et al. (2012) |
| Neurophysiology | Synaptic transmission | No change | Field potential recordings | Unreported | Nuytens K , et al. (2012) |
| Neurophysiology | Synaptic plasticity: hippocampal ltp | Increased | Field potential recordings | Unreported | Nuytens K , et al. (2012) |
| Neurophysiology | Synaptic plasticity | No change | Field potential recordings | Unreported | Nuytens K , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Nuytens K , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Nuytens K , et al. (2012) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | Unreported | Nuytens K , et al. (2012) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | Unreported | Nuytens K , et al. (2012) |
| Sensory | Hearing | No change | NA | Unreported | Nuytens K , et al. (2012) |
| Sensory | Foot shock sensitivity | No change | Foot shock test | Unreported | Nuytens K , et al. (2012) |
| Social behavior | Social interaction | No change | Three-chamber social approach test | Unreported | Nuytens K , et al. (2012) |
| Social behavior | Social interaction | Decreased | Three-chamber social approach test | Unreported | Nuytens K , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Nuytens K , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Nuytens K , et al. (2012) |
| Developmental profile | Size/growth | Decreased | General observations | 12 weeks | Nuytens K , et al. (2012) |
| Emotion | Anxiety | No change | Open field test | Unreported | Nuytens K , et al. (2012) |
| Emotion | Anxiety | No change | Elevated plus maze test | Unreported | Nuytens K , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Nuytens K , et al. (2012) |
| Learning & memory | Spatial reference memory | Decreased | Morris water maze test | Unreported | Nuytens K , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Increased | Fear conditioning test | Unreported | Nuytens K , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Nuytens K , et al. (2012) |
| Molecular profile | Protein expression level evidence | Increased | Western blot | 8 weeks | Nuytens K , et al. (2012) |
| Molecular profile | Gene expression | No change | In situ hybridization (ish) | Unreported | Nuytens K , et al. (2012) |
| Molecular profile | Gene expression | Decreased | In situ hybridization (ish) | Unreported | Nuytens K , et al. (2012) |
M_NBEA_3_KO_HT
Model Type: Genetic LOF
Model Genotype: Heterozygous
Mutation:
Mice harboring a gene trap vector 385 bp downstrean of exon 6 leading to a null mutation.
Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57Bl/6N
Es cell line: -
Model Source: BayGenomics
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synapse density: Excitatory | No change | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: Excitatory neurons | No change | Transmission electron microscopy (TEM) | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | Synaptic transmission: excitatory | No change | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | Synaptic plasticity: hippocampal LTP | Increased | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | Stimulus-spike relationship: inhibitory | No change | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | No change | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | Presynaptic function: paired-pulse depression (PPD) | No change | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | Population spikes | No change | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | Network excitability | Decreased | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | EPSP-spike relationship | No change | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
| Neurophysiology | Action potential property: amplitude | No change | Whole-cell patch clamp | 2-5 months | Muellerleile J et al. (2020) |
CNVs associated with NBEA(1 Models)
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| 13q13.3 | 13 | Deletion | 19 / 40 |