Genetic Mouse Models / NR2F1

NR2F1 nuclear receptor subfamily 2 group F member 1

Model Species
Mus musculus
Gene Aliases
COUP-TF1, COUP-TFI, COUPTFA, EAR-3, EAR3, Erbal3, SVP44, Tcfcoup1
Reports
1
Associated Human Genes
NR2F1
Models / Rescue Models
-
Rescue Model
-
Model Summary

Mouse Nr2f1 gene is involved in both dorsal and ventral telencephalic development. Nr2f1 heterozygous mice show E/I imbalance of neurons in the primary somatosensory cortex, impaired social interaction, impaired social memory, repetitive self-grooming, anxiety, decreaded spatial memory, no change in motor coordination. Treatment with GinkgolideA in adult mice, restored sociability, social memory, ameliorated self-grooming, improved spatial memory, decreased anxiety, in the short but not long term.

External Links
Entrez GeneMouse Genome Informatics
Reports related to NR2F1 (1 Reports)
# Type Title Author, Year
1 Primary Imbalance of Excitatory/Inhibitory Neuron Differentiation in Neurodevelopmental Disorders with an NR2F1 Point Mutation Zhang K et al. (2020)
Show all Construct Details Show all Phenotypic Profiles

M_NR2F1_1_KI_HT_R112K

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Nr2f1 point mutant mice with the humanized R112K substitution ( Nr2f1^+/m) were generated by injecting female C57BL/6 mice with Cas9 mRNAs, sgRNA, and donor oligo. The R112K point mutation (GRCh38.p12;chr5:93585358G>A; c.335G>A; p.R112K) locates in the DNA-binding domain of Nr2f1. Nr2f1^+/m;Gad1-GFP reporter mutant mice were generated for histological analyses. Nr2f1 point mutant mice were generated through in vitro fertilization (IVF) by injecting the CRISPR components in superovulated mice, as well as through natural mating.

Allele Type: Humanized LOF mutation
Strain of Origin: NA
Genetic Background: C57BL/6

Es cell line: NA
Model Source: NA
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Motor coordination and balance No change Accelerating rotarod test 2 months Zhang K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal specification Abnormal Immunofluorescence staining E12.5 Zhang K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: inhibitory neurons Increased Immunofluorescence staining 2 months Zhang K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: excitatory neurons No change Immunofluorescence staining 2 months Zhang K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: excitatory neurons Decreased Immunofluorescence staining 2 months Zhang K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation Abnormal Immunofluorescence staining E12.5 Zhang K et al. (2020)
Neurophysiology Miniature post synaptic current frequency: inhibitory Increased Whole-cell patch clamp 2 months Zhang K et al. (2020)
Neurophysiology Miniature post synaptic current frequency: excitatory Decreased Whole-cell patch clamp 2 months Zhang K et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: inhibitory Increased Whole-cell patch clamp 2 months Zhang K et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: excitatory Decreased Whole-cell patch clamp 2 months Zhang K et al. (2020)
Neurophysiology Action potential property: firing rate No change Whole-cell patch clamp 2 months Zhang K et al. (2020)
Repetitive behavior Self grooming: perseveration Increased Grooming behavior assessments 2 months Zhang K et al. (2020)
Repetitive behavior Perseveration Increased Y-maze test 2 months Zhang K et al. (2020)
Social behavior Social memory Decreased Three-chamber social approach test 2 months Zhang K et al. (2020)
Social behavior Social approach Decreased Three-chamber social approach test 2 months Zhang K et al. (2020)
Emotion Anxiety Increased Light-dark exploration test 2 months Zhang K et al. (2020)
Emotion Anxiety Increased Elevated plus maze test 2 months Zhang K et al. (2020)
Emotion Anxiety Increased Open field test 2 months Zhang K et al. (2020)
Learning & memory Spatial working memory Decreased Y-maze test 2 months Zhang K et al. (2020)
Learning & memory Object recognition memory Decreased Novel object recognition test 2 months Zhang K et al. (2020)
Molecular profile Signaling: hedgehog pathway Increased Immunofluorescence staining E12.5 Zhang K et al. (2020)

M_NR2F1_1_KI_HT_R112K_GINKGOLIDE-A

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Nr2f1 mutant mice were orally gavaged with 2 mg/kg Ginkgolide A or vehicle (0.5% methylcellulose +0.2% tween 80) daily for 1 week, between ages 7 weeks and 8 weeks, and behaviors were tested at 8 weeks of age.

Allele Type: Humanized LOF mutation
Strain of Origin: NA
Genetic Background: C57BL/6

Es cell line: NA
Model Source: NA
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neurophysiology Miniature post synaptic current frequency: inhibitory Refractory Whole-cell patch clamp 2 months Zhang K et al. (2020)
Neurophysiology Miniature post synaptic current frequency: excitatory Refractory Whole-cell patch clamp 2 months Zhang K et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: inhibitory Ameliorated Whole-cell patch clamp 2 months Zhang K et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: excitatory Refractory Whole-cell patch clamp 2 months Zhang K et al. (2020)
Repetitive behavior Self grooming: perseveration Ameliorated Grooming behavior assessments 2 months Zhang K et al. (2020)
Repetitive behavior Perseveration Refractory Y-maze test 2 months Zhang K et al. (2020)
Social behavior Social memory Restored Three-chamber social approach test 2 months Zhang K et al. (2020)
Social behavior Social approach Restored Three-chamber social approach test 2 months Zhang K et al. (2020)
Emotion Anxiety Restored Elevated plus maze test 2 months Zhang K et al. (2020)
Learning & memory Spatial working memory Refractory Y-maze test 2 months Zhang K et al. (2020)
Learning & memory Object recognition memory Refractory Novel object recognition test 2 months Zhang K et al. (2020)
CNVs associated with NR2F1(1 Models)
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5q15 19 Deletion-Duplication 29  /  51
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