RAB39B RAB39B, member RAS oncogene family
Model Species
Mus musculusGene Aliases
6330580M05RikModels / Rescue Models
-Rescue Model
-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.
External Links
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) |
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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 |
---|---|---|---|---|---|
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) |
Physiological parameters | Reproductive function | No change | General observations | Not reported | 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)
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Xq28 | 78 | Deletion-Duplication | 98 / 448 |