Genetic Animal Models / PTCHD1

PTCHD1 Patched domain containing 1

Model Species
Mus musculus
Gene Aliases
Gm387; AI848149; 9630036J22Rik
Reports
2
Associated Human Genes
PTCHD1
Models / Rescue Models
7 / 2
Rescue 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.

Reports related to PTCHD1 (2 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)
Show all Construct Details 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: bouts and duration of sleep 2-5 months Wells MF , et al. (2016)
Circadian sleep/wake cycle Non Rapid Eye Movement Sleep (NREMS) pattern Decreased Electroencephalogram (EEG): sleep spindle count 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: distance traveled 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: length and width of stride 2-5 months Wells MF , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Wells MF , et al. (2016)
Neurophysiology Tonic firing: thalamic neurons No Change Whole-cell patch clamp: thalamic reticular neurons P21-P28 Wells MF , et al. (2016)
Neurophysiology Ion influx and permeability: Calcium No Change Whole-cell patch clamp: calcium currents through T type channels P21-P28 Wells MF , et al. (2016)
Neurophysiology Ion efflux and permeability: potassium ions Decreased Whole-cell patch clamp: small conductance calcium-activated potassium channel (SK) current measurements P21-P28 Wells MF , et al. (2016)
Neurophysiology Intrinsic membrane properties No Change Whole-cell patch clamp: thalamic reticular neurons P21-P28 Wells MF , et al. (2016)
Neurophysiology Burst firing: thalamic neurons Decreased Whole-cell patch clamp: thalamic reticular neurons 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 - Not Reported - - 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: thalamic lateral geniculate nucleus 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: duration and latency to attack 2-5 months Wells MF , et al. (2016)
Communications - Not Reported - - 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 - Not Reported - - Wells MF , et al. (2016)
Homeostasis - Not Reported - - Wells MF , et al. (2016)
Immune response - Not Reported - - Wells MF , et al. (2016)
Learning & memory Spatial reference memory No Change Morris water maze test: probe trial 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: baseline phase 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: baseline and distractor phase 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 - Not Reported - - 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 - Not Reported - - Wells MF , et al. (2016)
Motor phenotype Hyperactivity Refractory Open field test 2-5 months Wells MF , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Wells MF , et al. (2016)
Neurophysiology - Not Reported - - Wells MF , et al. (2016)
Repetitive behavior - Not Reported - - Wells MF , et al. (2016)
Seizure - Not Reported - - Wells MF , et al. (2016)
Sensory - Not Reported - - Wells MF , et al. (2016)
Social behavior - Not Reported - - Wells MF , et al. (2016)
Communications - Not Reported - - Wells MF , et al. (2016)
Developmental profile - Not Reported - - Wells MF , et al. (2016)
Emotion - Not Reported - - Wells MF , et al. (2016)
Homeostasis - Not Reported - - Wells MF , et al. (2016)
Immune response - Not Reported - - Wells MF , et al. (2016)
Learning & memory - Not Reported - - Wells MF , et al. (2016)
Maternal behavior - Not Reported - - Wells MF , et al. (2016)
Molecular profile - Not Reported - - 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 - Not Reported - - 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 - Not Reported - - Wells MF , et al. (2016)
Neurophysiology - Not Reported - - Wells MF , et al. (2016)
Repetitive behavior - Not Reported - - Wells MF , et al. (2016)
Seizure - Not Reported - - 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)
Communications - Not Reported - - Wells MF , et al. (2016)
Developmental profile - Not Reported - - Wells MF , et al. (2016)
Emotion - Not Reported - - Wells MF , et al. (2016)
Homeostasis - Not Reported - - Wells MF , et al. (2016)
Immune response - Not Reported - - Wells MF , et al. (2016)
Learning & memory Reward reinforced choice behavior No Adverse Effect Operant conditioning paradigm: baseline phase 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: baseline and distractor phase 2-5 months Wells MF , et al. (2016)
Maternal behavior - Not Reported - - Wells MF , et al. (2016)
Molecular profile - Not Reported - - 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: bouts and duration of sleep 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 - Not Reported - - Wells MF , et al. (2016)
Neurophysiology - Not Reported - - Wells MF , et al. (2016)
Repetitive behavior - Not Reported - - Wells MF , et al. (2016)
Seizure - Not Reported - - Wells MF , et al. (2016)
Sensory - Not Reported - - Wells MF , et al. (2016)
Social behavior Aggression No Change Resident-intruder test: duration and latency to attack 2-5 months Wells MF , et al. (2016)
Communications - Not Reported - - Wells MF , et al. (2016)
Developmental profile - Not Reported - - Wells MF , et al. (2016)
Emotion - Not Reported - - Wells MF , et al. (2016)
Homeostasis - Not Reported - - Wells MF , et al. (2016)
Immune response - Not Reported - - Wells MF , et al. (2016)
Learning & memory Reward reinforced choice behavior No Change Operant conditioning paradigm: baseline phase 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: baseline and distractor phase 2-5 months Wells MF , et al. (2016)
Maternal behavior - Not Reported - - Wells MF , et al. (2016)
Molecular profile - Not Reported - - 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 - Not Reported - - 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: distance traveled 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 - Not Reported - - Wells MF , et al. (2016)
Neurophysiology - Not Reported - - Wells MF , et al. (2016)
Repetitive behavior - Not Reported - - Wells MF , et al. (2016)
Seizure - Not Reported - - 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)
Communications - Not Reported - - Wells MF , et al. (2016)
Developmental profile - Not Reported - - Wells MF , et al. (2016)
Emotion - Not Reported - - Wells MF , et al. (2016)
Homeostasis - Not Reported - - Wells MF , et al. (2016)
Immune response - Not Reported - - 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 - Not Reported - - Wells MF , et al. (2016)
Molecular profile - Not Reported - - 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
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)
Circadian sleep/wake cycle Locomotor activity in diurnal cycle: dark phase Increased Home cage behavior 2.6-3.4 months Ung DC , et al. (2017)
Circadian sleep/wake cycle Locomotor activity in diurnal cycle 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 Open field 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)
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 - Not Reported - - Ung DC , et al. (2017)
Seizure - Not Reported - - 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 Home cage behavior 2.6-3.4 months Ung DC , et al. (2017)
Social behavior Rearing behavior Increased Open field test 2.6-3.4 months Ung DC , et al. (2017)
Communications - Not Reported - - 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)
Homeostasis - Not Reported - - Ung DC , et al. (2017)
Immune response - Not Reported - - 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 - Not Reported - - 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 - Not Reported - - 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 - Not Reported - - Ung DC , et al. (2017)
Neurophysiology - Not Reported - - Ung DC , et al. (2017)
Repetitive behavior - Not Reported - - Ung DC , et al. (2017)
Seizure - Not Reported - - 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 Home cage behavior 2.6-3.4 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)
Communications - Not Reported - - 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)
Homeostasis - Not Reported - - Ung DC , et al. (2017)
Immune response - Not Reported - - 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 - Not Reported - - Ung DC , et al. (2017)
Molecular profile - Not Reported - - Ung DC , et al. (2017)
Other PTCHD1 Rescue Models(2 Models)
M_PTCHD1_1_KO_HE 1 Genetic Pharmaceutical Amphetamine
M_PTCHD1_1_KO_HE 1 Genetic Pharmaceutical EBIO
CNVs associated with PTCHD1(1 Models)
Xp22.11 16 Deletion-Duplication 29  /  84
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