PCDH19 protocadherin 19
Model Species
Mus musculusGene Aliases
B530002L05Rik, Gm717, mKIAA1313Models / Rescue Models
-Rescue Model
-Model Summary
Mutations in the PCDH19 gene have been identified as a cause of epilepsy-intellectual disability in females. Pcdh19 localized in layer Va in the somatosensory cortex in the postnatal brain.
External Links
Reports related to PCDH19 (1 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice. | Hayashi S , et al. (2017) |
Show all Construct Details
Show all Phenotypic Profiles
M_PCDH19_1_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Hemizygous knockout male mice where the entire first exon after the start codon of the Pcdh19 gene was replaced by a LacZ-neo selection cassette. The selection cassette was later removed using a Sox-2::Cre transgenic mouse.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Motor phenotype | Spinal reflex | No change | General observations | 10 weeks | Hayashi S , et al. (2017) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 10 weeks | Hayashi S , et al. (2017) |
| Motor phenotype | Grip strength | No change | Wire hang test | 10 weeks | Hayashi S , et al. (2017) |
| Motor phenotype | Grip strength | Decreased | Grip strength test | 10 weeks | Hayashi S , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 11-12, 34 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Somatosensory cortical map architecture | No change | Immunohistochemistry | Not reported | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine morphology | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Anatomical projections and connectivity | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Repetitive behavior | Vertical jumping or back flipping | Decreased | Open field test | 11-12, 34 weeks | Hayashi S , et al. (2017) |
| Repetitive behavior | Stereotypy | No change | Open field test | 11-12 weeks | Hayashi S , et al. (2017) |
| Repetitive behavior | Stereotypy | Increased | Open field test | 34 weeks | Hayashi S , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 10 weeks | Hayashi S , et al. (2017) |
| Sensory | Pain or nociception: thermal | Decreased | Open field test | 11-12 weeks | Hayashi S , et al. (2017) |
| Social behavior | Social interaction | No change | Reciprocal social interaction test | 10 weeks | Hayashi S , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Physiological parameters | Core body temperature | No change | Body temperature measurement | 10 weeks | Hayashi S , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 10 weeks | Hayashi S , et al. (2017) |
| Developmental profile | General characteristics | No change | General observations | 10 weeks | Hayashi S , et al. (2017) |
| Developmental profile | Coat color | No change | General observations | 10 weeks | Hayashi S , et al. (2017) |
| Emotion | Depression | Abnormal | Forced swim test | 10 weeks | Hayashi S , et al. (2017) |
| Emotion | Depression | Abnormal | Tail suspension test | 10 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | No change | Light-dark exploration test | 11-12, 34 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | No change | Open field test | 11-12, 34 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | No change | Elevated plus maze test | 11-12, 34 weeks | Hayashi S , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Learning & memory | Spatial working memory | No change | T-maze test | 10 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Spatial reference memory | No change | Barnes maze test | 10 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue: long term recall | No change | Fear conditioning test | 17 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | No change | Fear conditioning test | 11-12 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of context: long term recall | No change | Fear conditioning test | 17 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | 11-12 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning | No change | Fear conditioning test | 11-12 weeks | Hayashi S , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Western blot | E10.5, e14.5 | Hayashi S , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Histology | E10.5, e14.5 | Hayashi S , et al. (2017) |
M_PCDH19_2_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Heteroygous knockout female mice where the entire first exon after the start codon of the Pcdh19 gene was replaced by a LacZ-neo selection cassette. The selection cassette was later removed using a Sox-2::Cre transgenic mouse.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Motor phenotype | Spinal reflex | No change | General observations | 10 weeks | Hayashi S , et al. (2017) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 10 weeks | Hayashi S , et al. (2017) |
| Motor phenotype | Grip strength | No change | Grip strength test | 10 weeks | Hayashi S , et al. (2017) |
| Motor phenotype | Grip strength | Decreased | Wire hang test | 10 weeks | Hayashi S , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 11-12,34 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Somatosensory cortical map architecture | No change | Immunohistochemistry | Not reported | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine morphology | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Anatomical projections and connectivity | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Repetitive behavior | Vertical jumping or back flipping | No change | Open field test | 11-12, 34 weeks | Hayashi S , et al. (2017) |
| Repetitive behavior | Stereotypy | No change | Open field test | 11-12, 34 weeks | Hayashi S , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Sensory | Startle response: acoustic stimulus | Increased | Acoustic startle reflex test | 10 weeks | Hayashi S , et al. (2017) |
| Sensory | Pain or nociception: thermal | No change | Open field test | 10 weeks | Hayashi S , et al. (2017) |
| Social behavior | Social interaction | No change | Reciprocal social interaction test | 10 weeks | Hayashi S , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Physiological parameters | Core body temperature | Decreased | Body temperature measurement | 10 weeks | Hayashi S , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Developmental profile | Size/growth | No change | Body weight measurement | 10 weeks | Hayashi S , et al. (2017) |
| Developmental profile | General characteristics | No change | General observations | 10 weeks | Hayashi S , et al. (2017) |
| Developmental profile | Coat color | No change | General observations | 10 weeks | Hayashi S , et al. (2017) |
| Emotion | Depression | Decreased | Forced swim test | 10 weeks | Hayashi S , et al. (2017) |
| Emotion | Depression | Decreased | Tail suspension test | 10 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | No change | Light-dark exploration test | 11-12 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | No change | Open field test | 11-12 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | No change | Elevated plus maze test | 11-12 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | Decreased | Light-dark exploration test | 34 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | Decreased | Open field test | 34 weeks | Hayashi S , et al. (2017) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 34 weeks | Hayashi S , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Learning & memory | Spatial working memory | No change | T-maze test | 10 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Spatial reference memory | No change | Barnes maze test | 10 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue: long term recall | Decreased | Fear conditioning test | 17 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | Decreased | Fear conditioning test | 11-12 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of context: long term recall | Decreased | Fear conditioning test | 17 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Decreased | Fear conditioning test | 11-12 weeks | Hayashi S , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning | Decreased | Fear conditioning test | 11-12 weeks | Hayashi S , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Western blot | E10.5, e14.5, 1.2 months | Hayashi S , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Histology | E10.5, e14.5, 1.2 months | Hayashi S , et al. (2017) |
M_PCDH19_3_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Heteroygous knockout female mice where the entire first exon after the start codon of the Pcdh19 gene was replaced by a LacZ-neo selection cassette. The selection cassette was later removed using a Sox-2::Cre transgenic mouse.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Motor phenotype | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Somatosensory cortical map architecture | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine morphology | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Anatomical projections and connectivity | No change | Immunohistochemistry | 3 weeks | Hayashi S , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Developmental profile | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Western blot | E10.5, e14.5, 1, 2 weeks, 1.2 months | Hayashi S , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Histology | E10.5, e14.5, 1, 2 weeks, 1.2 months | Hayashi S , et al. (2017) |
M_PCDH19_4_TG
Model Type: Genetic
Model Genotype: Other
Mutation:
Mice with Pcdh19 overexpression in otherwise wild-type cortices. Pcdh19 was exogenously expressed in post-mitotic neurons of wild-type cortices by in utero electroporation of E12.5 brains. Mice were injected with a vector that encoded pNeuroD-Cre, which expresses Cre recombinase under the neuron-specific promotor NeuroD, and two conditional vectors that encode GFP and Pcdh19-FLAG in a Cre-dependent manner. The over-expression model was used to determine whether the mosaic distribution of Pcdh19 in heterozygous models was due to the homophilic binding property of protocadherins or X-linked inactivation. Control injected mice expressed only GFP.
Allele Type: Overexpression
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Motor phenotype | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal migration | No change | Immunohistochemistry | E12-18.5 | Hayashi S , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Developmental profile | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Hayashi S , et al. (2017) |
| Molecular profile | Cell adhesion | Increased | Immunohistochemistry | E12-18.5 | Hayashi S , et al. (2017) |
CNVs associated with PCDH19(1 Models)
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| Xq22.1 | 8 | Duplication | 12 / 20 |