Genetic Mouse Models / NBEA

NBEA Neurobeachin

Model Species
Mus musculus
Gene Aliases
Lyst2; mKIAA1544; Nbea
Reports
3
Associated Human Genes
NBEA
Models / 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.

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
Physiological parameters NA Not reported NA NA Medrihan L , et al. (2009)
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)
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
Physiological parameters NA Not reported NA NA Nuytens K , et al. (2012)
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)
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)
13q13.3 11 Deletion 16  /  37
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