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No Human Gene Data Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Duplication
 1
 
17
Duplication
 1
 
17
Deletion-Duplication
 7
 
17
Duplication
 1
 

Model Summary

Interaction of Cntnap1 with cytoskeletal adapter protein 4.1B is necessary for the generation of an efficient membrane barrier at the paranodal junction.

References

Type
Title
Author, Year
Primary
Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B.

M_CNTNAP1_1_KO_D4.1_TG

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Transgene of HA-tagged construct of human Cntnap1 cDNA with 4.1B binding domain deletion, C1d4.1 (delection of amino acids Q1307 to Y1315), in Cntnap1 knockout mice (PMID 14676309).
Allele Type: Targeted (knockout); Transgenic
Strain of Origin: CB6F1 (Transgene); Not Specified (knockout)
Genetic Background: Not Specified
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_CNTNAP1_2_KO_C1_TG

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Transgene of HA-tagged construct of human Cntnap1 cDNA, C1FL (full-length), in Cntnap1 knockout mice (PMID 14676309).
Allele Type: Targeted (knockout); Transgenic
Strain of Origin: CB6F1 (Transgene); Not Specified (knockout)
Genetic Background: Not Specified
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_CNTNAP1_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Neomycin resistant gene replaced an SphI-BssHII fragment containing the first exon of Cntnap1 including the initiator methionine and the signal sequence (Reference: PMID 14676309).
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background: Not Specified
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_CNTNAP1_1_KO_D4.1_TG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain cytoarchitecture1
Decreased
Description: Decreased average area of caspr-positive paranodes
Exp Paradigm: Immunofluorescence labeling of adult sciatic nerves using antibodies to caspr protein
 Immunohistochemistry
 Unreported
Protein expression level evidence1
Abnormal
Description: Abnormal variable expression of kv1.2 channel subunit at both jxp and pnj, at jxp, and in line bordering the nodes
Exp Paradigm: Kv1.2 channel expression
 Immunohistochemistry
 Unreported
Protein expression level evidence1
 No change
 Immunohistochemistry
 Unreported
Protein expression level evidence1
 No change
 Immunohistochemistry
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CNTNAP1_2_KO_C1_TG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Protein expression level evidence1
 No change
 Immunohistochemistry
 Unreported
Protein expression level evidence1
 No change
 Immunohistochemistry
 Unreported
Protein expression level evidence1
 No change
 Immunohistochemistry
 Unreported
Brain cytoarchitecture1
 No change
 Immunohistochemistry
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CNTNAP1_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Protein expression level evidence1
Abnormal
Description: Abnormal expression of kv1.2 channel subunit at the paranodal region adjacent to the nodes of ranvier
Exp Paradigm: Kv1.2 channel expression
 Immunohistochemistry
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of paranodal adhesion complex proteins, contactin and nf155
Exp Paradigm: Paranodal adhesion complex protein expression
 Immunohistochemistry
 Unreported
Protein expression level evidence1
Abnormal
Description: Abnormal expression of protein 4.1 b in sciatic nerve fibers with reduced expression in nodes, and normal expression at the paranodal junctions (pnj), justaparanodal region (jxp), and the internodes
Exp Paradigm: Protein 4.1b expression
 Immunohistochemistry
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

 

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