PTCHD1 Patched domain containing 1
Model Species
Mus musculusGene Aliases
Gm387; AI848149; 9630036J22RikModels / Rescue Models
9 / 3Rescue Model
-Model Summary
Ptchd1 null mice (males with Ptchd1 knocked out are also null) have increased hyperactivity, aggression and impaired learning in fear conditioning and passive avoidance paradigms. The null mice show abnormalities attributed to the thalamic nuclei networks, including changes in NREMS sleep pattern and sensory-evoked inhibition. Specific changes in neurophysiology of thalamic reticular and geniculate neurons is also reported.
External Links
Reports related to PTCHD1 (3 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice. | Wells MF , et al. (2016) |
| 2 | Additional | Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse. | Ung DC , et al. (2017) |
| 3 | Additional | Anterior thalamic dysfunction underlies cognitive deficits in a subset of neuropsychiatric disease models | Roy DS et al. (2021) |
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Show all Phenotypic Profiles
M_PTCHD1_1_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Ptchd1 conditional knockouts were generated by targeting lox P sites to flank exon 2 of the Ptchd1 gene and a neomycin selection cassette. After successful germline transmission the F1 mice were mated to C57BL/6 Beta actin Flp mice to excise the Neo cassette. The floxed mice were backcrossed to C57Bl/6 mice for 5 generations and then speed congenic genotyping PCR was used to select mice with >95% C57Bl/6 background for subsequent matings. For generating Ptchd1 hemizygous males, null for Ptchd1, the floxed mice were mated to C57Bl/6J Beta actin Cre mice to produce germline knockout of the floxed allele on X chromosome. Authors in Wells et al Nature 2016 note that the behavioral phenotypes in this background are similar regardless of background, as they test the same construct in a C57BL/6* 129 Sv background.
Allele Type: Knockout
Strain of Origin: 129X1/SvJ and 129S1/SV-+p+Tyr-cKitlSl-J/+
Genetic Background: C57BL/6
Es cell line: R1
Model Source: 27007844
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Sleep pattern | Decreased | Sleep analysis | 2-5 months | Wells MF , et al. (2016) |
| Circadian sleep/wake cycle | Non rapid eye movement sleep (nrems) pattern | Decreased | Electroencephalogram (eeg) | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Hyperactivity | Increased | Open field test | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Grip strength | Decreased | Wire hang test | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Gait | Decreased | Footprint analysis | 2-5 months | Wells MF , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Neurophysiology | Ion influx and permeability: calcium | No change | Whole-cell patch clamp | P21-p28 | Wells MF , et al. (2016) |
| Neurophysiology | Ion efflux and permeability: potassium ions | Decreased | Whole-cell patch clamp | P21-p28 | Wells MF , et al. (2016) |
| Neurophysiology | Intrinsic membrane properties | No change | Whole-cell patch clamp | P21-p28 | Wells MF , et al. (2016) |
| Neurophysiology | Action potential property: firing pattern | No change | Whole-cell patch clamp | P21-p28 | Wells MF , et al. (2016) |
| Neurophysiology | Action potential property: firing pattern | Decreased | Whole-cell patch clamp | P21-p28 | Wells MF , et al. (2016) |
| Repetitive behavior | Self grooming: perseveration | No change | Grooming behavior assessments | 2-5 months | Wells MF , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 2-5 months | Wells MF , et al. (2016) |
| Sensory | Sensory-evoked response: inhibition: visual stimulus | Decreased | Chloride photometry | 2-5 months | Wells MF , et al. (2016) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 2-5 months | Wells MF , et al. (2016) |
| Sensory | Pain or nociception | No change | Hot plate test | 2-5 months | Wells MF , et al. (2016) |
| Social behavior | Social memory | No change | Three-chamber social approach test | 2-5 months | Wells MF , et al. (2016) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 2-5 months | Wells MF , et al. (2016) |
| Social behavior | Aggression | Increased | Resident-intruder test | 2-5 months | Wells MF , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Developmental profile | Size/growth | No change | Body weight measurement | 2-5 months | Wells MF , et al. (2016) |
| Developmental profile | Mortality/lethality | No change | General observations | Adult | Wells MF , et al. (2016) |
| Emotion | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Learning & memory | Spatial reference memory | No change | Morris water maze test | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Spatial learning | No change | Morris water maze test | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Reward reinforced choice behavior | No change | Operant conditioning paradigm | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Cued or contextual fear conditioning: passive avoidance | Decreased | Passive avoidance test | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Cognitive flexibility: distractor suppression | Decreased | Operant conditioning paradigm | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Cognitive flexibility | No change | Morris water maze test | 2-5 months | Wells MF , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Molecular profile | Calcium ion uptake | Decreased | Calcium imaging | P21-p28 | Wells MF , et al. (2016) |
M_PTCHD1_1_KO_HE_AMPHETAMINE
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
Ptchd1 null mice (germline knockouts) were treated acutely with amphetamine to test the efficacy of this drug in treating hyperactivity.
Allele Type: Knockout
Strain of Origin: 129X1/SvJ and 129S1/SV-+p+Tyr-cKitlSl-J/+
Genetic Background: C57BL/6
Es cell line: R1
Model Source: 27007844
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Motor phenotype | Hyperactivity | Refractory | Open field test | 2-5 months | Wells MF , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Sensory | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Social behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Emotion | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Learning & memory | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
M_PTCHD1_1_KO_HE_EBIO
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
Ptchd1 null mice (germline knockouts) were treated acutely with 1-ethyl-benzimidazolinone (1 - EBIO) (Tocris # 1041) at a dose of 25 mg/kg in 10% DMSO, subcutaneously, 30 min prior to testing. Controls were treated with vehicle.
Allele Type: Knockout
Strain of Origin: 129X1/SvJ and 129S1/SV-+p+Tyr-cKitlSl-J/+
Genetic Background: C57BL/6
Es cell line: R1
Model Source: 27007844
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Motor phenotype | Hyperactivity | Restored | Open field test | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Grip strength | Refractory | Wire hang test | 2-5 months | Wells MF , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Sensory | Sensory-evoked response: inhibition: visual stimulus | Ameliorated | Chloride photometry | 2-5 months | Wells MF , et al. (2016) |
| Social behavior | Aggression | Refractory | Resident-intruder test | 2-5 months | Wells MF , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Emotion | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Learning & memory | Reward reinforced choice behavior | No adverse effect | Operant conditioning paradigm | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Cued or contextual fear conditioning: passive avoidance | Refractory | Passive avoidance test | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Cognitive flexibility: distractor suppression | Ameliorated | Operant conditioning paradigm | 2-5 months | Wells MF , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
M_PTCHD1_2_CKO_HE_SSTN
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 2 of the Ptchd1 gene using SST-cre, in somatostatin expressing interneurons
Allele Type: Conditional loss-of-function
Strain of Origin: 129X1/SvJ and 129S1/SV-+p+Tyr-cKitlSl-J/+
Genetic Background: C57BL/6
Es cell line: R1
Model Source: 27007844
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Sleep pattern | Decreased | Sleep analysis | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Hyperactivity | Increased | Open field test | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Grip strength | No change | Wire hang test | 2-5 months | Wells MF , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Sensory | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Social behavior | Aggression | No change | Resident-intruder test | 2-5 months | Wells MF , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Emotion | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Learning & memory | Reward reinforced choice behavior | No change | Operant conditioning paradigm | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Cued or contextual fear conditioning: passive avoidance | No change | Passive avoidance test | 2-5 months | Wells MF , et al. (2016) |
| Learning & memory | Cognitive flexibility: distractor suppression | Decreased | Operant conditioning paradigm | 2-5 months | Wells MF , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
M_PTCHD1_3_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Ptchd1 KO mice with exon 2 deleted on a mixed genetic background of C57BL/6 *129
Allele Type: Knockout
Strain of Origin: 129X1/SvJ and 129S1/SV-+p+Tyr-cKitlSl-J/+
Genetic Background: C57BL/6 * 129
Es cell line: R1
Model Source: 27007844
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Hyperactivity | Increased | Open field test | 2-5 months | Wells MF , et al. (2016) |
| Motor phenotype | Grip strength | Decreased | Wire hang test | 2-5 months | Wells MF , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 2-5 months | Wells MF , et al. (2016) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 2-5 months | Wells MF , et al. (2016) |
| Sensory | Pain or nociception | No change | Hot plate test | 2-5 months | Wells MF , et al. (2016) |
| Social behavior | Social memory | No change | Three-chamber social approach test | 2-5 months | Wells MF , et al. (2016) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 2-5 months | Wells MF , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Emotion | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Learning & memory | Cued or contextual fear conditioning: passive avoidance | Decreased | Passive avoidance test | 2-5 months | Wells MF , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Wells MF , et al. (2016) |
M_PTCHD1_4_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Ptched1 hemizygous male mice (-/y) were generated by Cre mediated excision of the critical exon 2 using a targeting vector purchased from KOMP containing a flipped STOP cassette that includes an engrailed2 splice acceptor, an IRES sequence, a lacz cDNA and a floxed human beta-actin promoter driven Neo casette.
Allele Type: Knockout
Strain of Origin: BALB/cN*C57BL/6N
Genetic Background: BALB/cN*C57BL/6N
Es cell line: C57BL/6N
Model Source: 28416808
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Locomotor activity in diurnal cycle | Increased | Home cage behavior | 2.6-3.4 months | Ung DC , et al. (2017) |
| Circadian sleep/wake cycle | Adaptation to dark phase | Increased | Home cage behavior | 2.6-3.4 months | Ung DC , et al. (2017) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Motor phenotype | Grip strength | Decreased | Grip strength test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | Increased | Social recognition test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | Increased | Open field test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic morphology: synaptic cleft length | Decreased | Transmission electron microscopy (tem) | 2.6-3.4 months | Ung DC , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic morphology: active zone | Abnormal | Transmission electron microscopy (tem) | 2.6-3.4 months | Ung DC , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synapse density: excitatory | Decreased | Transmission electron microscopy (tem) | 2.6-3.4 months | Ung DC , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Post-synaptic density size: excitatory synapses | Decreased | Transmission electron microscopy (tem) | 2.6-3.4 months | Ung DC , et al. (2017) |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | Decreased | Paired-pulse ratio | 3 weeks | Ung DC , et al. (2017) |
| Neurophysiology | Miniature post synaptic current frequency: excitatory | Decreased | Whole-cell patch clamp | 3 weeks | Ung DC , et al. (2017) |
| Neurophysiology | Miniature post synaptic current amplitude: excitatory | No change | Whole-cell patch clamp | 3 weeks | Ung DC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 3-4 months | Ung DC , et al. (2017) |
| Sensory | Pain or nociception | No change | Hot plate test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Sensory | Pain or nociception | No change | Foot shock test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Social behavior | Social interaction | No change | Social recognition test | 3-4 months | Ung DC , et al. (2017) |
| Social behavior | Social approach | No change | Social recognition test | 3-4 months | Ung DC , et al. (2017) |
| Social behavior | Rearing behavior | Increased | Open field test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Social behavior | Rearing behavior | Increased | Home cage behavior | 2.6-3.4 months | Ung DC , et al. (2017) |
| Physiological parameters | Satiety response | No change | Food intake measurements | 3-4 months | Ung DC , et al. (2017) |
| Physiological parameters | Satiety response | Decreased | Food intake measurements | 3-4 months | Ung DC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Developmental profile | Size/growth | Increased | Body weight measurement | 2.6-3.4 months | Ung DC , et al. (2017) |
| Emotion | Anxiety | Decreased | Open field test | 3-4 months | Ung DC , et al. (2017) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 3-4 months | Ung DC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Learning & memory | Spatial working memory | Decreased | Y-maze test | 3-4 months | Ung DC , et al. (2017) |
| Learning & memory | Object recognition memory | Decreased | Novel object recognition test | 3-4 months | Ung DC , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | Decreased | Fear conditioning test | 3-4 months | Ung DC , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Decreased | Fear conditioning test | 3-4 months | Ung DC , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning | Decreased | Fear conditioning test | 3-4 months | Ung DC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Quantitative pcr (qrt-pcr) | 3-4 months | Ung DC , et al. (2017) |
| Molecular profile | Gene expression | Increased | Rna sequencing | 1 month | Ung DC , et al. (2017) |
M_PTCHD1_5_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Ptched1 homozygous knockout female mice (-/-) were generated by Cre mediated excision of the critical exon 2 using a targeting vector purchased from KOMP containing a flipped STOP cassette that includes an engrailed2 splice acceptor, an IRES sequence, a lacz cDNA and a floxed human beta-actin promoter driven Neo casette.
Allele Type: Knockout
Strain of Origin: BALB/cN*C57BL/6N
Genetic Background: BALB/cN*C57BL/6N
Es cell line: C57BL/6N
Model Source: 28416808
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Motor phenotype | Grip strength | No change | Grip strength test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | Increased | Open field test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 3-4 months | Ung DC , et al. (2017) |
| Social behavior | Rearing behavior | No change | Open field test | 2.6-3.4 months | Ung DC , et al. (2017) |
| Social behavior | Rearing behavior | No change | Home cage behavior | 2.6-3.4 months | Ung DC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Developmental profile | Size/growth | No change | Body weight measurement | 2.6-3.4 months | Ung DC , et al. (2017) |
| Emotion | Anxiety | No change | Open field test | 3-4 months | Ung DC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | Decreased | Fear conditioning test | 3-4 months | Ung DC , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Decreased | Fear conditioning test | 3-4 months | Ung DC , et al. (2017) |
| Learning & memory | Cued or contextual fear conditioning | Decreased | Fear conditioning test | 3-4 months | Ung DC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Ung DC , et al. (2017) |
M_PTCHD1_6_KD_HE_AD
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
To test whether ad dysfunction plays a role in memory deficits in a ptchd1 model, we took advantage of our finding that ad, but not av, projects to presub. optimized circuit-based crispr-cas9 viral approach included a retrograde rv-expressing cre (rvdgl-cre) injected in presub and a virus expressing target guide rnas (aav9-sgrna<ptchd1>-mch) combined with a cre-dependent spcas9 virus (aav9-dio-spcas9) injected in ad, to knock down ptchd1 in ad
Allele Type: Knockdown
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: 34197733
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission | decreased | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cued or contextual fear conditioning: memory of context | decreased | Fear conditioning test | 3-5 months | Roy DS et al. (2021) |
| Neurophysiology | Neuronal ion channel activity | abnormal | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
| Neurophysiology | Network excitability | increased | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
| Neurophysiology | Action potential property: threshold | no change | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
| Neurophysiology | Action potential property: half-width | decreased | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
| Neurophysiology | Action potential property: firing rate | increased | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
| Learning & memory | Spatial working memory | decreased | T-maze test | 3-5 months | Roy DS et al. (2021) |
| Learning & memory | Reward reinforced choice behavior | no change | T-maze test | 3-5 months | Roy DS et al. (2021) |
| Molecular profile | Targeted expression | decreased | Fluorescence in situ hybridization | not specified | Roy DS et al. (2021) |
M_PTCHD1_6_KD_HE_AD_C21
Model Type: RESCUE-Genetic
Model Genotype: Hemizygous
Mutation:
Dose-dependent chemogenetic approach to normalize the excitability of ad neurons in kd mice. optimized circuit-based crispr-cas9 viral approach included a retrograde rv-expressing cre (rvdgl-cre) injected in presub. a virus expressing target guide rnas (aav9-sgrna<ptchd1>-mch) combined with a cre-dependent spcas9 virus (aav9-dio-spcas9) and a cre-dependent inhibitory dreadds hm4di-mcherry virus (aav8-dio-hm4di-mcitr) injected in ad, to knock down ptchd1 in ad and rescue chemogenetic reversibly rescue ad excitability via ligand compound 21 (c21).
Allele Type: Knockdown
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: 34197733
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission | restored | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cued or contextual fear conditioning: memory of context | restored | Fear conditioning test | 3-5 months | Roy DS et al. (2021) |
| Neurophysiology | Network excitability | restored | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
| Neurophysiology | Action potential property: firing rate | restored | Whole-cell current clamp | 8-12 weeks | Roy DS et al. (2021) |
Other PTCHD1 Rescue Models(3 Models)
| M_PTCHD1_1_KO_HE | 1 | Genetic | Pharmaceutical | Amphetamine |
| M_PTCHD1_1_KO_HE | 1 | Genetic | Pharmaceutical | EBIO |
| M_PTCHD1_6_KD_HE_AD | 1 | Genetic | Genetic | - |
CNVs associated with PTCHD1(1 Models)
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| Xp22.11 | 18 | Deletion-Duplication | 31 / 90 |