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.

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)
7q22.1 21 Deletion-Duplication 38  /  145
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