Genetic Mouse Models / ACTL6B

ACTL6B actin like 6B

Model Species
Mus musculus
Gene Aliases
Actl6, ArpNa, Baf53b
Reports
1
Associated Human Genes
ACTL6B
Models / Rescue Models
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Rescue Model
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Model Summary

Actl6b KO mice show decreased survival, corpus callosum hypoplasia, thinner myelin sheaths, decreased sociability, decreaed social interaction with a juvenile, decreased reciprocal social interaction, impaired spatial memory, increase in distance travelled, repetitive behaviors, hyperactivity, reduced affinity for neuronal chromatin.

External Links
Entrez GeneMouse Genome InformaticsAllen Brain Atlas
Reports related to ACTL6B (1 Reports)
# Type Title Author, Year
1 Primary Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism Wenderski W et al. (2020)
Show all Construct Details Show all Phenotypic Profiles

M_ACTL6B_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Actl6b KO mice where exons 2 and 3 are replaced with a neo cassette. Mice were provided recovery gel after weaning to increase survival.

Allele Type: Knockout
Strain of Origin: 129S6/SvEV*C57BL/6
Genetic Background: C57BL/6

Es cell line: NA
Model Source: Stanford University
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype General locomotor activity: ambulatory activity Increased Open field test 7-11 weeks Wenderski W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum Decreased Immunohistochemistry 7-11 weeks Wenderski W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Immunohistochemistry 7-11 weeks Wenderski W et al. (2020)
Social behavior Social interaction: with juveniles Decreased Reciprocal social interaction test 7 weeks Wenderski W et al. (2020)
Social behavior Social approach Decreased Three-chamber social approach test 7-11 weeks Wenderski W et al. (2020)
Social behavior Rearing behavior Increased Open field test 7-11 weeks Wenderski W et al. (2020)
Social behavior Inanimate object preference No change Novel object interaction test 7 weeks Wenderski W et al. (2020)
Developmental profile Mortality/lethality No change Survival analysis 7-11 weeks Wenderski W et al. (2020)
Emotion Anxiety No change Open field test 7-11 weeks Wenderski W et al. (2020)
Emotion Anxiety Increased Open field test 7-11 weeks Wenderski W et al. (2020)
Molecular profile Protein-dna complex assembly Decreased Western blot E18.5 Wenderski W et al. (2020)
Molecular profile Protein expression level evidence Increased Western blot P0 Wenderski W et al. (2020)
Molecular profile Protein binding Increased Western blot P0 Wenderski W et al. (2020)
Molecular profile Differential gene expression Abnormal Rna sequencing E16.5 Wenderski W et al. (2020)

M_ACTL6B_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Actl6b KO mice where exons 2 and 3 are replaced with a neo cassette

Allele Type: Knockout
Strain of Origin: 129S6/SvEV*C57BL/6
Genetic Background: C57BL/6

Es cell line: NA
Model Source: Stanford University
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum No change Immunohistochemistry 7-11 weeks Wenderski W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Immunohistochemistry 7-11 weeks Wenderski W et al. (2020)
Social behavior Social interaction: with juveniles Decreased Reciprocal social interaction test 7 weeks Wenderski W et al. (2020)
Social behavior Social approach Decreased Three-chamber social approach test 7-11 weeks Wenderski W et al. (2020)
Social behavior Inanimate object preference No change Novel object interaction test 7 weeks Wenderski W et al. (2020)
Developmental profile Mortality/lethality No change Survival analysis 7-11 weeks Wenderski W et al. (2020)
Emotion Anxiety No change Open field test 7-11 weeks Wenderski W et al. (2020)
Molecular profile Protein-dna complex assembly Decreased Western blot E18.5 Wenderski W et al. (2020)
Molecular profile Protein expression level evidence No change Western blot P0 Wenderski W et al. (2020)
Molecular profile Protein binding Increased Western blot P0 Wenderski W et al. (2020)

M_ACTL6B_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Actl6b KO mice where exons 2 and 3 are replaced with a neo cassette. Male F1 hybrids were used in the experiment.

Allele Type: Knockout
Strain of Origin: 129S6/SvEV*C57BL/6
Genetic Background: 129S6/SvEV*C57BL/6

Es cell line: NA
Model Source: Fujita Health University
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype General locomotor activity: ambulatory activity Increased Open field test 12-16 weeks Wenderski W et al. (2020)
Repetitive behavior Stereotypy Increased Open field test 12-16 weeks Wenderski W et al. (2020)
Social behavior Social interaction Decreased Reciprocal social interaction test 12-16 weeks Wenderski W et al. (2020)
Emotion Anxiety Decreased Open field test 12-16 weeks Wenderski W et al. (2020)
Learning & memory Spatial working memory Decreased Barnes maze test 12-16 weeks Wenderski W et al. (2020)
Learning & memory Reward reinforced choice behavior: short-term memory Decreased T-maze test 12-16 weeks Wenderski W et al. (2020)
CNVs associated with ACTL6B(1 Models)
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7q22.1 28 Deletion-Duplication 46  /  156
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