Genetic Mouse Models / PCDH19

PCDH19 protocadherin 19

Model Species
Mus musculus
Gene Aliases
B530002L05Rik, Gm717, mKIAA1313
Reports
1
Associated Human Genes
PCDH19
Models / 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
Physiological parameters Core body temperature No change Body temperature measurement 10 weeks Hayashi S , et al. (2017)
Physiological parameters - Not reported - - Hayashi S , et al. (2017)
Circadian sleep/wake cycle - Not reported - - 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 - Not reported - - 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 - Not reported - - 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)
Communications - Not reported - - 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 - Not reported - - 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 - Not reported - - 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
Physiological parameters Core body temperature Decreased Body temperature measurement 10 weeks Hayashi S , et al. (2017)
Physiological parameters - Not reported - - Hayashi S , et al. (2017)
Circadian sleep/wake cycle - Not reported - - 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 - Not reported - - 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 - Not reported - - 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)
Communications - Not reported - - 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 - Not reported - - 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 - Not reported - - 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
Physiological parameters - Not reported - - Hayashi S , et al. (2017)
Circadian sleep/wake cycle - Not reported - - Hayashi S , et al. (2017)
Motor phenotype - Not reported - - 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 - Not reported - - Hayashi S , et al. (2017)
Repetitive behavior - Not reported - - Hayashi S , et al. (2017)
Seizure - Not reported - - Hayashi S , et al. (2017)
Sensory - Not reported - - Hayashi S , et al. (2017)
Social behavior - Not reported - - Hayashi S , et al. (2017)
Communications - Not reported - - Hayashi S , et al. (2017)
Developmental profile - Not reported - - Hayashi S , et al. (2017)
Emotion - Not reported - - Hayashi S , et al. (2017)
Immune response - Not reported - - Hayashi S , et al. (2017)
Learning & memory - Not reported - - Hayashi S , et al. (2017)
Maternal behavior - Not reported - - 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
Physiological parameters - Not reported - - Hayashi S , et al. (2017)
Circadian sleep/wake cycle - Not reported - - Hayashi S , et al. (2017)
Motor phenotype - Not reported - - Hayashi S , et al. (2017)
Neuroanatomy / ultrastructure / cytoarchitecture Neuronal migration No change Immunohistochemistry E12-18.5 Hayashi S , et al. (2017)
Neurophysiology - Not reported - - Hayashi S , et al. (2017)
Repetitive behavior - Not reported - - Hayashi S , et al. (2017)
Seizure - Not reported - - Hayashi S , et al. (2017)
Sensory - Not reported - - Hayashi S , et al. (2017)
Social behavior - Not reported - - Hayashi S , et al. (2017)
Communications - Not reported - - Hayashi S , et al. (2017)
Developmental profile - Not reported - - Hayashi S , et al. (2017)
Emotion - Not reported - - Hayashi S , et al. (2017)
Immune response - Not reported - - Hayashi S , et al. (2017)
Learning & memory - Not reported - - Hayashi S , et al. (2017)
Maternal behavior - Not reported - - 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)
Xq22.1 7 Duplication 11  /  18
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