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Gene: Ptchd1 MGI:2685233

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Gene Summary

Name:
patched domain containing 1
Synonyms:
9630036J22Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 1.58×10-12
increased lean body mass Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 9.78×10-05
abnormal spleen morphology Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 0.00
abnormal auditory brainstem response Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 7.59×10-09
increased exploration in new environment Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 5.15×10-07
increased circulating creatinine level Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 5.02×10-05
increased exploration in new environment Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 1.61×10-05
abnormal cued conditioning behavior Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 3.33×10-05
abnormal locomotor behavior Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 9.39×10-06
hyperactivity Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 2.76×10-13
increased aggression Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 3.38×10-06
decreased erythrocyte cell number Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 5.03×10-05
decreased bone mineral density Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 8.13×10-05
increased vertical activity Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 2.27×10-13
abnormal vocalization Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 4.84×10-06
abnormal contextual conditioning behavior Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 4.08×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Pathology and Tissue Collection

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Ptchd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ptchd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Attention deficit hyperactivi... OMIM:300830

The table below shows human diseases predicted to be associated to Ptchd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Attention deficit hyperactivi... OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Hypotonia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... OMIM:137580
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Bruxism, Spasticity OMIM:615493
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Aggressive behavior, Inability to walk, Hypotonia, Attention deficit hyper... OMIM:619639
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Generalized hypotonia, Attention deficit hype... OMIM:617113
Hartnup Disorder
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional l... OMIM:234500
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Spastic tetraplegia, Hypotonia, Irritability, Spasticity OMIM:616657
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity, Hypotonia DECIPHER:20
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Depression, Gait ataxia, Progressive cerebellar ataxia, Attention defi... OMIM:605361
Landau-Kleffner Syndrome
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... ORPHA:98818
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Hypotonia, Bruxism, Spasticity ORPHA:356996
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Attention deficit hyperactivity disorder, Difficulty walking, Ment... OMIM:619191
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Rigidity, Depression, Inappropriate behavior, Cognitive impairment, Dystonia, Memory impa... ORPHA:401901
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Depression, Gait ataxia, Irritability, Progres... ORPHA:248111
Schizophrenia 15
Hyperactivity OMIM:613950
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Ment... ORPHA:2382
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Hypotonia, Spasti... ORPHA:599373
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, EEG abnormality, Generalized hypotonia, Ab... OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... OMIM:301008
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Failure to thrive ORPHA:99852
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Generalized... OMIM:615516
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Hypotonia, Self-mutilation DECIPHER:8
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate lau... ORPHA:411515
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Dystonia, Mental deterioration, Spasticity OMIM:615924
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... OMIM:605899
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Multifocal epilepti... ORPHA:228360
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... ORPHA:54057
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Inability to walk, Increased theta frequency activity in EEG, Emotio... ORPHA:1929
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Ataxia, Narcolepsy, Depression, Dementia, Memory impairment, Spasticity OMIM:604121
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Hearing impairment OMIM:620270
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavio... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Hypotonia OMIM:613402
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... ORPHA:206443
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia, S... OMIM:301107
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Rigidity, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Att... OMIM:261600
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... ORPHA:168491
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ... OMIM:610042
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Hypotonia, Abnormal r... OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes,... OMIM:607876
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Axial hypotonia, Ataxia, Spastic ... ORPHA:35069
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Bruxism, EEG abnormality, Self-injurious behavior, Infantile mu... OMIM:618718
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Dysphagia, Gait ataxia, EEG a... ORPHA:500180
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... OMIM:609425
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... ORPHA:52368
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Schistocytosis, Elevated circulating creatinine concentration, Microa... OMIM:274150
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Hypotonia, Attention deficit hyperactivity disorder OMIM:617182
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hypotonia, Generalized hypotonia, Aggressive behavior OMIM:248510
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, EEG with ir... ORPHA:1942
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Irritability, Joint contra... OMIM:616881
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, EEG abnormality, Self-injurious behavior, ... OMIM:271980
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Choreoathetosis, Dystonia, Spasticity OMIM:612716
Ck Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Irritability, Abnormal cortical bon... OMIM:300831
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Hypotonia, Depression, Atten... OMIM:620242
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Aggressive behavior, Unsteady gait, Depression, Self-injuri... ORPHA:485350
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, EEG with abnormally slow frequenci... ORPHA:98794
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Axial hypotonia, Hypotonia, Gait ataxia, Crouch gait, Spasticity OMIM:620145
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Narcolepsy, Depression, Mental deterioration, Memory impairment, Spasticity ORPHA:314404
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Hypotonia, Agitation OMIM:300558
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Hypotonia, Depression, Self-injurious behavior, Compulsive be... OMIM:619467
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Joint sti... OMIM:252920
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysphagia, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:610217
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Progressive spastic paraparesis, Dementia, Disinhibition, Gai... ORPHA:43
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Splen... OMIM:617302
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Hypotonia, Depression, Self-injurious behavior, Hypertonia, Generalized hy... OMIM:601853
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Hypotonia, Depression, Irritability, Se... ORPHA:449291
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Progressive neurologic deterioration, Elevated circulating creatinine concentr... ORPHA:247691
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... OMIM:612736
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Joint laxity, Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment ORPHA:457260
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... OMIM:301013
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Abnormal... OMIM:620292
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Progressive psychomotor deterioration, Gait ataxia, Cognitive impairment, ... ORPHA:363400
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Progressive neurologic deterioration, Ag... ORPHA:646
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Abnormal pinna morphology, Small for gestational age, Failure to thrive in... OMIM:614104
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Hyperactivity, Sensorineural hearing impairment, Decreased body... OMIM:608747
Cerebrotendinous Xanthomatosis
Osteopenia, Progressive psychomotor deterioration, Ataxia, Osteoporosis, Increased susceptibility... ORPHA:909
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Lower limb spasticity, Hyperactivity, Ataxia, Confusion, Spastic tetrapares... ORPHA:139396
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Hypotonia, ... OMIM:619913
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Aggressive behavior, Hypotonia, Diminished ability to concentrate, Attention defic... OMIM:301069
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Axial hypotonia, Ataxia, Broad-based gait, Tongue thrusting, Pica, Hypotonia, Unst... OMIM:617865
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive neurologic ... ORPHA:206448
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Hypotonia, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno... OMIM:617600
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hyperactivity, Aggressive behavior, Irritability, Macrotia, Abnormal repetitive mann... ORPHA:391307
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Small for gestational age, Congenital sensorineural hearing ... ORPHA:73272
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... OMIM:193700
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Dense calvaria, Dysphagia, Motor dete... OMIM:252930
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Rigidity, Phonic tics, Depression, Blepharospasm, Dysphagia, Cho... OMIM:234200
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration, Anemia OMIM:266900
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Hypotonia, Opisthotonus, Gait ataxia, Inap... OMIM:103050
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Dense calvaria, Hearing impairment OMIM:252900
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Bacterial Toxic-Shock Syndrome
Confusion, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... ORPHA:36234
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Short attention span, Hyperactivity, Facial hypotonia, Dysphagia, Neonatal hypotonia ORPHA:589821
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Failure to thrive, Hypsarrhythmia OMIM:619239
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Joint hyperflexibility, Athetosis, Self-m... ORPHA:52503
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Failure to thrive, Foot joint contracture, Ata... ORPHA:90321
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Craniosynostosis, Splenomegaly, Jaundice, Neutropenia in presence of... ORPHA:525731
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope... ORPHA:3240
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Hypotonia, EEG abnormality, Progressive gait ataxia, Gen... OMIM:105830
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... OMIM:207800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... ORPHA:760
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Cockayne Syndrome A
Hip contracture, Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potent... OMIM:216400
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... OMIM:609136
Hyperlysinemia
Short attention span, Neck hypertonia, Hyperactivity, Spastic tetraparesis, Spastic diplegia, Dys... ORPHA:2203
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Osteomyelitis, Abnormal autonomic nervous system physiology, Emotional lability, P... OMIM:256800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Choreoacanthocytosis
Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decrease... ORPHA:2388
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Cockayne Syndrome B
Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Small for g... OMIM:133540
Cardiogenic Shock
Elevated circulating creatinine concentration, Confusion ORPHA:97292
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Hemorrhagic Fever-Renal Syndrome
Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr... ORPHA:340
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked... ORPHA:171929
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... ORPHA:49041
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Conductive hearing impairment, Abnormal repetitive manneris... ORPHA:580
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Multiple joint contractures, Hair-pulling, Protruding ear, Hypsarrhythmia, Irritab... ORPHA:447997
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Failure to... ORPHA:401973
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Narcolepsy 3
Narcolepsy OMIM:609039
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Narcolepsy 1
Narcolepsy OMIM:161400
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Sensorineural hearing impairment, Optic atroph... ORPHA:79330
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Narcolepsy, Depression, Self-injurious behavior, Compulsive behaviors, Gener... ORPHA:293987
Oligomeganephronia
Polydipsia, Elevated circulating creatinine concentration ORPHA:2260
Narcolepsy 7
Narcolepsy OMIM:614250
African Trypanosomiasis
Akinesia, Aggressive behavior, Narcolepsy, Choreoathetosis, Irritability, Gait disturbance, Diffi... ORPHA:3385
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Osteomyelitis, Short attention span, Impulsivity, Painless fractures ... ORPHA:642
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:91500
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... ORPHA:449395
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ptchd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptchd1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2017) Ptchd1tm1a(KOMP)IcsOrl Ptchd1tm1d(KOMP)IcsOrl 29118110

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptchd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ptchd1tm1a(KOMP)IcsOrl KO first allele (reporter-tagged insertion with conditional potential) Mice
Ptchd1tm94175(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ptchd1tm1b(KOMP)IcsOrl Reporter-tagged deletion allele (with selection cassette) Mice
Ptchd1tm94175(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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