Genetic Mouse Models / RAB39B

RAB39B RAB39B, member RAS oncogene family

Model Species
Mus musculus
Gene Aliases
6330580M05Rik
Reports
1
Associated Human Genes
RAB39B
Models / Rescue Models
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Rescue Model
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Model Summary

Rab39b hemizygous knockout mice exhibit cortical neurogenesis impairment, macrocephaly, decreased body weight, no change in anxiety, increased ambulation, no change in social approach, decreased social memory, decreased motor learning, no change in self-grooming, and no change in marble-burying.

Reports related to RAB39B (1 Reports)
# Type Title Author, Year
1 Primary Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes Zhang W et al. (2020)
Show all Construct Details Show all Phenotypic Profiles

M_RAB39B_1_KO_HE

Model Type: Genetic
Model Genotype: Hemizygous

Mutation:

Male mice with hemizygous deletion of Rab39b generated using two CRISPRCas 9 guide RNAs targeting to delete 397 bps in exon 2 in C57BL/N6 oocytes.

Allele Type: Hemizygous
Strain of Origin: C57BL/N6
Genetic Background: C57BL/6N

Es cell line: NA
Model Source: PMID 32115408
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters Reproductive function No change General observations Not reported Zhang W et al. (2020)
Motor phenotype Motor learning Decreased Accelerating rotarod test 2 months Zhang W et al. (2020)
Motor phenotype Motor coordination and balance No change Accelerating rotarod test 2 months Zhang W et al. (2020)
Motor phenotype General locomotor activity: ambulatory activity Increased Open field test 2 months Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number No change Immunofluorescence staining E14.5, e18.5 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number Increased Immunofluorescence staining E14.5, e16.5, e18.5, p20 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology Increased Histomorphometry P20 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Histomorphometry P20 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination No change Immunofluorescence staining E14.5, e18.5. p20 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Increased Immunohistochemistry E14.5 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Increased Immunohistochemistry E14.5 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Decreased Pulse-chase analysis E13.5-14.5 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Measurement of tissue weight P20, e18.5 Zhang W et al. (2020)
Repetitive behavior Self grooming: perseveration No change Grooming behavior assessments 2 months Zhang W et al. (2020)
Repetitive behavior Repetitive digging No change Marble-burying test 2 months Zhang W et al. (2020)
Social behavior Social memory Decreased Three-chamber social approach test 2 months Zhang W et al. (2020)
Social behavior Social approach No change Three-chamber social approach test 2 months Zhang W et al. (2020)
Developmental profile Size/growth Decreased Body weight measurement P20 Zhang W et al. (2020)
Developmental profile Mortality/lethality No change General observations Not reported Zhang W et al. (2020)
Developmental profile General characteristics No change General observations Not reported Zhang W et al. (2020)
Emotion Anxiety No change Open field test 2 months Zhang W et al. (2020)
Molecular profile Targeted expression Decreased Western blot Not reported Zhang W et al. (2020)
Molecular profile Signaling: mtor pathway Increased Immunohistochemistry E14.5 Zhang W et al. (2020)

M_RAB39B_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Female mice with homozygous deletion of Rab39b generated using two CRISPRCas 9 guide RNAs targeting to delete 397 bps in exon 2 in C57BL/N6 oocytes.

Allele Type: Hemizygous
Strain of Origin: C57BL/N6
Genetic Background: C57BL/6N

Es cell line: NA
Model Source: PMID 32115408
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology Increased Histomorphometry P20 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Histomorphometry P20 Zhang W et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Measurement of tissue weight P20 Zhang W et al. (2020)
Developmental profile Size/growth Decreased Body weight measurement P20 Zhang W et al. (2020)
CNVs associated with RAB39B(1 Models)
Xq28 65 Deletion-Duplication 83  /  424
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