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Relevance to Autism

Several studies have found rare single gene mutations, including deletions and missense mutations, in the PTCHD1 gene that have associations with autism. For example, Marshall et al. (2008) found a 160kb deletion that results in a null mutation for the PTCHD1 gene.

Molecular Function

PTCHD1 is suggested to be a transmembrane protein containing a patched-related domain with twelve transmembrane helices, highly related to the Hedgehog (Hh) receptors PATCHED1 (PTCH1) and PTCH2 as well as to Niemann-Pick Type C1 protein (NPC1).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Positive Association
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
ASD
ID
Support
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
DD, ID
Autistic features
Support
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
NDD
ASD, ID
Support
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
ASD
ID
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, ID, Afs
Support
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Epilepsy/seizures
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Recent Recommendation
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
ASD, ID
Recent Recommendation
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
ID

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN203R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R002 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN203R003 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN203R004 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R005 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN203R006 
 missense_variant 
 c.517A>G 
 p.Ile173Val 
 Familial 
 Maternal 
 Simplex 
 GEN203R007a 
 missense_variant 
 c.1008G>T 
 p.Met336Ile 
 Familial 
 Maternal 
 Simplex 
 GEN203R007b 
 missense_variant 
 c.1009C>A 
 p.Leu337Ile 
 Familial 
 Maternal 
 Simplex 
 GEN203R008 
 missense_variant 
 c.1436A>G 
 p.Glu479Gly 
 Familial 
 Maternal 
 Simplex 
 GEN203R009 
 missense_variant 
 c.217C>T 
 p.Leu73Phe 
 Familial 
 Maternal 
 Multiplex 
 GEN203R010 
 missense_variant 
 c.1409C>A 
 p.Ala470Asp 
 Familial 
 Maternal 
  
 GEN203R011 
 missense_variant 
 c.1076A>G 
 p.His359Arg 
 Familial 
 Maternal 
 Multiplex 
 GEN203R012 
 missense_variant 
 c.517A>G 
 p.Ile173Val 
 Familial 
 Maternal 
 Simplex 
 GEN203R013 
 missense_variant 
 c.583G>A 
 p.Val195Ile 
 Familial 
 Maternal 
 Simplex 
 GEN203R014 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN203R015 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R016 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN203R017 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R018 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R019 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R020 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R021 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R022 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multi-generational 
 GEN203R023 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN203R024 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R025 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN203R026 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R027 
 frameshift_variant 
 c.2128del 
 p.Leu710CysfsTer13 
 Familial 
 Maternal 
 Multi-generational 
 GEN203R028 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R029 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R030 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R031 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN203R032 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN203R033 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R034 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R035 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN203R036 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R037 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R038 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R039 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN203R040 
 frameshift_variant 
 c.1796dup 
 p.Asn599LysfsTer8 
 Familial 
 Maternal 
 Multi-generational 
 GEN203R041 
 frameshift_variant 
 c.1444del 
 p.Leu482TyrfsTer14 
 Familial 
 Maternal 
  
 GEN203R042 
 stop_gained 
 c.2071C>T 
 p.Arg691Ter 
 De novo 
 NA 
 Simplex 
 GEN203R043 
 frameshift_variant 
 c.1444del 
 p.Leu482TyrfsTer14 
 De novo 
 NA 
 Simplex 
 GEN203R044 
 2KB_upstream_variant 
  
  
 Unknown 
  
 Unknown 
 GEN203R045 
 2KB_upstream_variant 
  
  
 Unknown 
  
 Unknown 
 GEN203R046 
 missense_variant 
 c.152G>A 
 p.Ser51Asn 
 Unknown 
  
 Unknown 
 GEN203R047 
 intron_variant 
 c.352-4A>C 
  
 Unknown 
  
 Unknown 
 GEN203R048 
 synonymous_variant 
 c.690G>A 
 p.Glu230= 
 Unknown 
  
 Unknown 
 GEN203R049 
 missense_variant 
 c.542A>C 
 p.Lys181Thr 
 Familial 
 Maternal 
 Multiplex 
 GEN203R050 
 intergenic_variant 
 T>G 
  
  
  
 Unknown 
 GEN203R051 
 missense_variant 
 c.113T>A 
 p.Leu38Gln 
 Familial 
 Maternal 
 Multiplex 
 GEN203R052 
 missense_variant 
 c.95C>T 
 p.Pro32Leu 
 Familial 
 Maternal 
  
 GEN203R053 
 missense_variant 
 c.95C>G 
 p.Pro32Arg 
 Familial 
 Maternal 
  
 GEN203R054 
 missense_variant 
 c.638A>G 
 p.Tyr213Cys 
 Familial 
 Maternal 
  
 GEN203R055 
 missense_variant 
 c.898G>C 
 p.Gly300Arg 
 Familial 
 Maternal 
  
 GEN203R056 
 missense_variant 
 c.928G>C 
 p.Ala310Pro 
 De novo 
 NA 
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN203C001 
 intron_variant 
 rs7052177 
 c.351+21539T>G 
  
 595 ASD cases and 671 controls (European descent) 
 Discovery 
 GEN203C002 
 intron_variant 
 rs7052177 
 c.351+21539T>G 
  
 399 ASD cases and 364 controls (European descent) 
 Replication 
 GEN203C003 
 trinucleotide_repeat_microsatellite_feature, 2KB_upstream_variant 
  
 (GCC)14 
  
 240 ASD cases and 585 controls 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 17
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

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.

References

Type
Title
Author, Year
Primary
Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice.
Additional
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.

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
Mutant ES Cell Line:
Model Source: 27007844

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
Mutant ES Cell Line:
Model Source: 27007844

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
Mutant ES Cell Line:
Model Source: 27007844

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
Mutant ES Cell Line:
Model Source: 28416808

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
Mutant ES Cell Line:
Model Source: 28416808

M_PTCHD1_1_KO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Sleep pattern1
Decreased
Description: Ptchd1 knockouts have decreased number of bouts of sleep or fragmented sleep even if the duration is the same as wild type controls
Exp Paradigm: NA
 Sleep analysis
 2-5 months
Non rapid eye movement sleep (nrems) pattern1
Decreased
Description: Sleep spindle counts are reduced in ptchd1 knockouts during sleep
Exp Paradigm: NA
 Electroencephalogram (eeg)
 2-5 months
Gait1
Decreased
Description: Foot print analysis reveals anomalous gait as elongated length and width of stride is observed in ptchd1 mice
Exp Paradigm: NA
 Footprint analysis
 2-5 months
Hyperactivity1
Increased
Description: Ptchd1 knockout mice have increased distance traveled in the open field test compared to controls indicating hyperactivity throughout the test
Exp Paradigm: NA
 Open field test
 2-5 months
Grip strength1
Decreased
Description: Ptchd1 knockout mice have reduced grip strength in the hanging wire test indicating hypotonia
Exp Paradigm: NA
 Wire hang test
 2-5 months
Action potential property: firing pattern1
Decreased
Description: Burst firing is decreased in thalamic reticular neurons indicating an impairment in either calcium or potassium currents through t type or sk channels, repectively
Exp Paradigm: NA
 Whole-cell patch clamp
 P21-p28
Ion efflux and permeability: potassium ions1
Decreased
Description: K currents are reduced by 50% in thalamic reticular neurons through sk channels compared to wild type, leading to insufficient potassium mediated hyperpolarization
Exp Paradigm: NA
 Whole-cell patch clamp
 P21-p28
Sensory-evoked response: inhibition: visual stimulus1
Decreased
Description: The transient inhibitory chloride currents in the thalamic laternal geniculate nucleus, in response to visual stimulation, are found to be reduced in the ptchd1 knockout mice, impaired inhibition is observed in response to trains of stimuli as well
Exp Paradigm: NA
 Chloride photometry
 2-5 months
Aggression1
Increased
Description: Ptchd1 knockout mice show increased aggression towards intruder mouse compared to controls
Exp Paradigm: NA
 Resident-intruder test
 2-5 months
Cued or contextual fear conditioning: passive avoidance1
Decreased
Description: Ptchd1 knockouts have decreased latency to enter the chamber they received a shock compared to wild type controls
Exp Paradigm: NA
 Passive avoidance test
 2-5 months
Cognitive flexibility: distractor suppression1
Decreased
Description: In the altered operant conditioning paradigm that includes a distractor in the anticipatory phase ptchd1 knockout mice perform significantly worse, with increased number of errors, compared to wild type controls
Exp Paradigm: NA
 Operant conditioning paradigm
 2-5 months
Calcium ion uptake1
Decreased
Description: Calcium ion concentration is reduced in the resting state neuron, assessed using ratiometric calcium indicator fura-2 am from acute brain slices
Exp Paradigm: NA
 Calcium imaging
 P21-p28
Mortality/lethality1
 No change
 General observations
 Adult
Size/growth1
 No change
 Body weight measurement
 2-5 months
Cognitive flexibility1
 No change
 Morris water maze test
 2-5 months
Reward reinforced choice behavior1
 No change
 Operant conditioning paradigm
 2-5 months
Spatial learning1
 No change
 Morris water maze test
 2-5 months
Spatial reference memory1
 No change
 Morris water maze test
 2-5 months
Motor coordination and balance1
 No change
 Accelerating rotarod test
 2-5 months
Action potential property: firing pattern1
 No change
 Whole-cell patch clamp
 P21-p28
Intrinsic membrane properties1
 No change
 Whole-cell patch clamp
 P21-p28
Ion influx and permeability: calcium1
 No change
 Whole-cell patch clamp
 P21-p28
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 2-5 months
Pain or nociception1
 No change
 Hot plate test
 2-5 months
Sensorimotor gating1
 No change
 Prepulse inhibition
 2-5 months
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 2-5 months
Social approach1
 No change
 Three-chamber social approach test
 2-5 months
Social memory1
 No change
 Three-chamber social approach test
 2-5 months
 Not Reported: Communications, Emotion, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Seizure

M_PTCHD1_2_CKO_HE_SSTN

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Sleep pattern1
Decreased
Description: Ptchd1 sstn knockout mice show decreased or fragmented sleep
Exp Paradigm: NA
 Sleep analysis
 2-5 months
Hyperactivity1
Increased
Description: Ptchd1 sstn knockout mice travel more distance compared to wild type mice in open field test
Exp Paradigm: NA
 Open field test
 2-5 months
Cognitive flexibility: distractor suppression1
Decreased
Description: Ptchd1 sstn knockout mice also have poor suppression of distraction as introduction of a distractor in the anticipation phase impairs their performance significantly more than it does for wild type mice
Exp Paradigm: NA
 Operant conditioning paradigm
 2-5 months
Cued or contextual fear conditioning: passive avoidance1
 No change
 Passive avoidance test
 2-5 months
Reward reinforced choice behavior1
 No change
 Operant conditioning paradigm
 2-5 months
Grip strength1
 No change
 Wire hang test
 2-5 months
Motor coordination and balance1
 No change
 Accelerating rotarod test
 2-5 months
Aggression1
 No change
 Resident-intruder test
 2-5 months
 Not Reported: Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_PTCHD1_3_KO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Grip strength1
Decreased
Description: Ptchd1 knockout mice, on mixed background, have reduced grip strength in the hanging wire test indicating hypotonia
Exp Paradigm: NA
 Wire hang test
 2-5 months
Hyperactivity1
Increased
Description: Ptchd1 knockout mice, on mixed background, have increased distance traveled in the open field test compared to controls indicating hyperactivity throughout the test
Exp Paradigm: NA
 Open field test
 2-5 months
Cued or contextual fear conditioning: passive avoidance1
Decreased
Description: Ptchd1 knockouts on mixed background also have decreased latency to enter the chamber they received a shock compared to wild type controls
Exp Paradigm: NA
 Passive avoidance test
 2-5 months
Motor coordination and balance1
 No change
 Accelerating rotarod test
 2-5 months
Pain or nociception1
 No change
 Hot plate test
 2-5 months
Sensorimotor gating1
 No change
 Prepulse inhibition
 2-5 months
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 2-5 months
Social approach1
 No change
 Three-chamber social approach test
 2-5 months
Social memory1
 No change
 Three-chamber social approach test
 2-5 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_PTCHD1_4_KO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Locomotor activity in diurnal cycle1
Increased
Description: Mutants show increased locomotion during the diurnal cycle, including the habituation phase and the light and dark phases, compared to controls.
Exp Paradigm: Locomotor activity was measured in a circadian activity test over 35 hr and totaled for each phase of the cycle.
 Home cage behavior
 2.6-3.4 months
Adaptation to dark phase1
Increased
Description: Mutants show increased activity in the back of the cage during the dark phase compared to controls.
Exp Paradigm: NA
 Home cage behavior
 2.6-3.4 months
General locomotor activity: ambulatory activity1
Increased
Description: Mutants show an increase in total distance travelled in the open field and total number of object box entries in the social recognition test, compared to controls.
Exp Paradigm: Open field test
 Open field test
 2.6-3.4 months
Motor coordination and balance1
Decreased
Description: Mutants show decreased latency to fall from the rotarod compared to controls.
Exp Paradigm: NA
 Accelerating rotarod test
 2.6-3.4 months
Grip strength1
Decreased
Description: Mutants show a slight decrease in grip strength compared to controls.
Exp Paradigm: NA
 Grip strength test
 2.6-3.4 months
General locomotor activity: ambulatory activity1
Increased
Description: Mutants show an increase in total distance travelled in the open field and total number of object box entries in the social recognition test, compared to controls.
Exp Paradigm: Social recognition test
 Social recognition test
 2.6-3.4 months
Synaptic morphology: synaptic cleft length1
Decreased
Description: Mutants show decreased width of the synaptic cleft compared to controls.
Exp Paradigm: NA
 Transmission electron microscopy (tem)
 2.6-3.4 months
Synaptic morphology: active zone1
Abnormal
Description: Mutants show an increase in the number of neurotransmitter vesicles in the synaptic boutons compared to controls.
Exp Paradigm: NA
 Transmission electron microscopy (tem)
 2.6-3.4 months
Synapse density: excitatory1
Decreased
Description: Mutants show a decrease in the number of excitatory synapses in the hippocampus compared to controls.
Exp Paradigm: NA
 Transmission electron microscopy (tem)
 2.6-3.4 months
Post-synaptic density size: excitatory synapses1
Decreased
Description: Mutants show a decrease in the size of the post synaptic density in excitatory neurons compared to controls.
Exp Paradigm: NA
 Transmission electron microscopy (tem)
 2.6-3.4 months
Presynaptic function: paired-pulse facilitation1
Decreased
Description: Mutants show decreased paired pulse ratio in the schaeffer collateral axons, the main excitatory input onto ca1 pyramidal neurons, compared to controls, indicating an increased release probability at these synapses.
Exp Paradigm: NA
 Paired-pulse ratio
 3 weeks
Miniature post synaptic current frequency: excitatory1
Decreased
Description: Mutants show increase in mepsc frequency in the hippocampal ca1 pyramidal neurons compared to controls.
Exp Paradigm: Mepscs were recorded at -70mv in the presence of tetrodotoxin and picrotoxin.
 Whole-cell patch clamp
 3 weeks
Rearing behavior1
Increased
Description: Mutants show increased rearings compared to controls.
Exp Paradigm: Open field test
 Open field test
 2.6-3.4 months
Rearing behavior1
Increased
Description: Mutants show increased rearings compared to controls.
Exp Paradigm: Home cage behavior
 Home cage behavior
 2.6-3.4 months
Size/growth1
Increased
Description: Mutants show a slight increase in body weight compared to controls.
Exp Paradigm: NA
 Body weight measurement
 2.6-3.4 months
Anxiety1
Decreased
Description: Mutants spend more time in the center of the open field and show increased number of entries and time spent in the open arms of the elevated plus maze, compared to controls.
Exp Paradigm: Open field test
 Open field test
 3-4 months
Anxiety1
Decreased
Description: Mutants spend more time in the center of the open field and show increased number of entries and time spent in the open arms of the elevated plus maze, compared to controls.
Exp Paradigm: Elevated plus maze test
 Elevated plus maze test
 3-4 months
Cued or contextual fear conditioning1
Decreased
Description: Mutants show decreased levels of baseline freezing during habituation to the conditioning cages, compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 3-4 months
Object recognition memory1
Decreased
Description: Mutants showed decreased recognition index of an object 3 hours after the acquisition trial and spent more time exploring the novel object, compared to controls.
Exp Paradigm: NA
 Novel object recognition test
 3-4 months
Cued or contextual fear conditioning: memory of cue1
Decreased
Description: Mutants show decreased cued freezing performance compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 3-4 months
Cued or contextual fear conditioning: memory of context1
Decreased
Description: Mutants show decreased contextual freezing performance compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 3-4 months
Spatial working memory1
Decreased
Description: Mutants show decreased percentage of spontaneous alterations in the y maze compared to controls.
Exp Paradigm: NA
 Y-maze test
 3-4 months
Targeted expression1
Decreased
Description: Mutants show absence of the full length ptchd1 transcript and weak expression of the alternatively spliced transcript that skips exon2, compared to controls.
Exp Paradigm: NA
 Quantitative pcr (qrt-pcr)
 3-4 months
Gene expression1
Increased
Description: Mutants show abnormal gene expression for a number of hippocampal genes compared to controls. mutants show an aberrant upregulation of a number of psd associated genes (dlg4, shank1,2,3), presynaptic genes (synt1, bsn, vamp2), and transcription factors (egr1, npas4) compared to controls.
Exp Paradigm: NA
 Rna sequencing
 1 month
Miniature post synaptic current amplitude: excitatory1
 No change
 Whole-cell patch clamp
 3 weeks
Satiety response1
 No change
 Food intake measurements
 3-4 months
Pain or nociception1
 No change
 Foot shock test
 2.6-3.4 months
Pain or nociception1
 No change
 Hot plate test
 2.6-3.4 months
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 3-4 months
Social approach1
 No change
 Social recognition test
 3-4 months
Social interaction1
 No change
 Social recognition test
 3-4 months
 Not Reported: Communications, Immune response, Maternal behavior, Physiological parameters, Repetitive behavior, Seizure

M_PTCHD1_5_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Motor coordination and balance1
Decreased
Description: Mutants show decreased latency to fall from the rotarod compared to controls.
Exp Paradigm: NA
 Accelerating rotarod test
 2.6-3.4 months
General locomotor activity: ambulatory activity1
Increased
Description: Mutants show an increase in total distance travelled in the open field compared to controls.
Exp Paradigm: NA
 Open field test
 2.6-3.4 months
Cued or contextual fear conditioning: memory of context1
Decreased
Description: Mutants show decreased contextual freezing performance compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 3-4 months
Cued or contextual fear conditioning1
Decreased
Description: Mutants show decreased levels of baseline freezing during habituation to the conditioning cages, compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 3-4 months
Cued or contextual fear conditioning: memory of cue1
Decreased
Description: Mutants show decreased cued freezing performance compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 3-4 months
Size/growth1
 No change
 Body weight measurement
 2.6-3.4 months
Anxiety1
 No change
 Open field test
 3-4 months
Grip strength1
 No change
 Grip strength test
 2.6-3.4 months
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 3-4 months
Rearing behavior1
 No change
 Home cage behavior
 2.6-3.4 months
Rearing behavior1
 No change
 Open field test
 2.6-3.4 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012

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