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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
abnormal vocalization Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 4.84×10-06
abnormal cued conditioning behavior Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 3.33×10-05
increased vertical activity Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 7.91×10-14
increased exploration in new environment Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 1.61×10-05
abnormal spleen morphology Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 0.00
decreased erythrocyte cell number Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 5.03×10-05
hyperactivity Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 1.58×10-12
abnormal contextual conditioning behavior Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 4.36×10-05
decreased bone mineral density Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 8.13×10-05
increased exploration in new environment Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 5.15×10-07
increased aggression Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 3.38×10-06
increased lean body mass Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 9.78×10-05
abnormal auditory brainstem response Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 1.30×10-06
abnormal locomotor behavior Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 9.39×10-06
increased circulating creatinine level Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 5.02×10-05
hyperactivity Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 2.76×10-13

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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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1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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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
Aggressive behavior, Generalized hypotonia, Impulsivity, 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
X-Linked Complicated Spastic Paraplegia Type 1
Cognitive impairment, Spastic paraplegia, Ataxia, Mental deterioration ORPHA:306617
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
Hyperlysinemia, Type I
Hyperlysinemia, Anemia, Hyperlysinuria, Cognitive impairment, Hyperactivity OMIM:238700
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cognitive impairment, Truncal ataxia, Generalized hypotonia, Limb ataxia, Difficulty walking ORPHA:363432
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Generalized hypotonia, Impulsivity, Hypotonia, Attention deficit hyperactivi... OMIM:300830
Autosomal Recessive Spastic Paraplegia Type 56
Tip-toe gait, Cognitive impairment, Spastic gait, Spastic paraplegia, Unsteady gait, Dystonia ORPHA:320411
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Cognitive impairment, Spastic paraplegia, Unsteady gait, Dystonia OMIM:615030
Intellectual Developmental Disorder, Autosomal Recessive 37
Spasticity, Hyperactivity, Aggressive behavior, Generalized hypotonia, Hypotonia OMIM:615493
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Hypotonia, Cognitive impairment, Ataxia ORPHA:1178
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity, Hypotonia DECIPHER:20
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Hyperactivity, Spastic tetraplegia, Inability to walk, Hypotonia, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, EEG abnormality, EEG with focal sharp slow waves, Ment... ORPHA:2382
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, EEG abnormality, Generalized hypotonia, Ataxia, Hypotonia OMIM:239500
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Anxiety, Mental ... OMIM:619191
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia 14
Gait ataxia, Dysmetria, Focal dystonia, Attention deficit hyperactivity disorder, Dysphagia, Ment... OMIM:605361
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Oral motor hypotonia, Rigidity, Dementia, Ataxia, Progressive cerebel... ORPHA:248111
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, EEG with ... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Cognitive impairment, Inertia, Rigidity, Limb dystonia, Gait disturbance, Emotional l... ORPHA:216873
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Developmental And Epileptic Encephalopathy 104
Hypsarrhythmia, Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Smith-Magenis syndrome
Hyperactivity, Hypotonia, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Rigidity, Ataxia, Dystonia, Anxiety, Memory impairment ORPHA:401901
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Generalized hypotonia, Ataxia, Impulsivity, Attention deficit hype... OMIM:617113
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Apathy, Dementia, Anxiety, Athetosis OMIM:615483
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Hyperactivity, Ataxia, Mental deterioration, Dystonia OMIM:615924
Cln5 Disease
Hyperactivity, Aggressive behavior, Spasticity, Anxiety, Inability to walk, Truncal ataxia, EEG w... ORPHA:228360
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Spasticity, Ataxia, Dementia, Narcolepsy, Memory impairment OMIM:604121
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Restlessness, Hyp... OMIM:605899
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Rasmussen Subacute Encephalitis
Hyperactivity, Cognitive impairment, Inability to walk, Increased theta frequency activity in EEG... ORPHA:1929
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Macrotia, Aggressive behavior, Small for gestational age, Failure to ... OMIM:609425
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Aggressive behavior, Cognitive impairment, Abulia, Spastic ataxia, Rigidity, Pseudobu... ORPHA:199354
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Broad-based gait OMIM:619470
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Cognitive impairment, Dementia, Jerk-locked premyoclonus spikes, EEG with irregula... OMIM:607876
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Hypotonia, Ataxia OMIM:613402
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Gait disturbance, Emotio... ORPHA:206443
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Spasticity, EEG abnormality, Generalized hypotonia, Ataxia, A... OMIM:610042
Spinocerebellar Ataxia 19
Gait ataxia, Cognitive impairment, Truncal ataxia, Limb ataxia, Cogwheel rigidity, Dysphagia, Pro... OMIM:607346
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Agitation, Prominent ear helix, Impulsivity ORPHA:100973
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Shuffling gait, Abnor... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Self-injurious ... OMIM:619827
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Aggressive behavior, Spasticity, EEG abnormality, Inability to walk, ... ORPHA:500180
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Cognitive impairment, Abnormality of somatosensory evoked potentials, Ataxia, EEG wit... ORPHA:280219
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Cognitive impairment, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea ni... OMIM:235400
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Optic atrophy, Ataxia, Abnormal pinna morphology OMIM:300983
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, EEG abnormality, Generalized hypoton... OMIM:271980
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Hypotonia, Athetosis, Dystonia ORPHA:382
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, EEG with focal ... ORPHA:163681
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Hypotonia OMIM:618090
Infantile Neuroaxonal Dystrophy
Hyperactivity, Abnormality of peripheral nerve conduction, Spasticity, Progressive spasticity, Ch... ORPHA:35069
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity grade 4, Hyperactivity, EEG with series of focal spikes, Aggre... ORPHA:168491
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Happy demeanor, Ataxia, Polyphagia, Obesity, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Spasticity, Choreoathetosis, Ataxia, Axial hypotonia, Dystonia OMIM:612716
Spinocerebellar Ataxia 21
Gait ataxia, Aggressive behavior, Cognitive impairment, Akinesia, Apathy, Limb ataxia, Ataxia, Im... OMIM:607454
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia OMIM:617056
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, EEG abnormality, Failure to thrive, Impulsivity, Self-mutilation OMIM:604317
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Joint laxity, Broad-based gait, Hearing impairment ORPHA:457260
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia OMIM:617872
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Gait disturbance, Heari... OMIM:601455
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Spasticity, Ataxia, Narcolepsy, Mental deterioration, Memory impairment ORPHA:314404
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Hyperactivity, Self-injurious behavior, Inability to walk, EEG abnormality, Infantile... OMIM:618718
Recessive Mitochondrial Ataxia Syndrome
Cognitive impairment, Generalized hypotonia, Gait disturbance, Ataxia, Dysmetria, Dysphagia, Limb... ORPHA:94125
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia, Aggressive behavior, Prominent crus of helix, Anxiety, Attention deficit... OMIM:301013
Niemann-Pick Disease Type C
Aggressive behavior, Cognitive impairment, Progressive gait ataxia, Limb dystonia, Apathy, Disinh... ORPHA:646
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612926
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Ataxia, Failure to thrive, Prolonged brainstem auditory evoked potentials, Irritab... OMIM:616881
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Generalized hypotonia, Neonatal hypotonia, Unsteady gait, Sel... OMIM:615516
Xq25 Microduplication Syndrome
Facial hypotonia, Hyperactivity, Generalized hypotonia, Anxiety ORPHA:521258
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Ck Syndrome
Hyperactivity, Aggressive behavior, Abnormal cortical bone morphology, Joint hypermobility, Slend... OMIM:300831
Phenylketonuria
Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attent... OMIM:261600
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis ORPHA:54057
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Suicidal ideation, Increased theta frequency activity in EEG, Paroxysmal dy... ORPHA:98784
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Dense calvaria, Hearing impairment, Progressive neurologic de... OMIM:252920
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Polydipsia OMIM:619468
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity, Aggressive behavior, Self-injurious behavior OMIM:618362
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612925
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Hyperactivity, Aggressive behavior, Cognitive impairment, Gait d... ORPHA:43
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Hyperactivity, Spasticity, Crouch gait, Hypotonia, Axial hypotonia OMIM:620145
Ck Syndrome
Hyperactivity, Aggressive behavior, Joint hypermobility, Slender build, Irritability, Posteriorly... ORPHA:251383
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Macrotia, Anteverted ears OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, Spasticity, EEG abnormality, Hypsarrhythmia, Dysmetria, Hypot... OMIM:617773
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Infantile muscular hypotonia, EEG wi... ORPHA:485350
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cognitive impairment, Normocytic anemia, Apathy, Progressive neurologic deterioration, Anxiety, E... ORPHA:247691
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Rigidity, Choreoa... OMIM:620023
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,... OMIM:601596
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... ORPHA:91547
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal emotion/affect behavior, EEG with polyspike wave complexes, Interictal ep... ORPHA:1942
Chromosome Xq25 Duplication Syndrome
Facial hypotonia, Hyperactivity, Generalized hypotonia, Anxiety OMIM:300979
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Hyperactivity, Spasticity, Dysdiadochokinesis, Emotional lability, Impulsivity, Dysm... OMIM:610217
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Spasticity, Cognitive impairment, Limb dystonia, Ataxia, Progressive ... ORPHA:363400
Usmani-Riazuddin Syndrome, Autosomal Dominant
Spasticity, Hyperactivity, Aggressive behavior, Self-injurious behavior, Hypotonia, Anxiety OMIM:619467
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... ORPHA:96369
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Cognitive impairment, Self-injurious behavior, Generalized hypotonia, Ataxia, Hypo... OMIM:601853
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Failure to thrive, Hearing impairment ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Decreased body weight, Broad-based gait, Hearing impairment OMIM:300958
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... OMIM:600501
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Aggressive behavior, Elevated circulating guanidinoacetic acid concen... OMIM:612736
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior ORPHA:101039
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Adult-Onset Autosomal Dominant Leukodystrophy
Gait ataxia, Flexion contracture, Sensorineural hearing impairment, Abnormality of somatosensory ... ORPHA:99027
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Cognitive impairment, Dysdiadochokinesis, Truncal ataxia, Choreoathet... ORPHA:101
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Macrotia, Small for gestational age, Happy demeanor, Gait disturbance, Ataxia, Abn... OMIM:614104
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Adult Krabbe Disease
EEG abnormality, Gait disturbance, Ataxia, Progressive neurologic deterioration, Mental deteriora... ORPHA:206448
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Aggressive behavior, Macrotia, Agitation, Anxiety, Restlessness OMIM:300558
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Spastic tetraplegia, EEG with polyspike wave complexes, EEG with burst suppression... OMIM:619913
Cerebrotendinous Xanthomatosis
Increased susceptibility to fractures, Aggressive behavior, Cognitive impairment, Abnormality of ... ORPHA:909
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Sensorineural hearing impairment, Cognitive impairment, Inability to walk, Absent br... ORPHA:101085
Optic Atrophy 11
Splenomegaly, Macrotia, Hyperactivity, Gait apraxia, Optic atrophy, EEG with focal sharp waves, O... OMIM:617302
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia OMIM:617744
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Aggressive behavior OMIM:615286
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, EEG abnormality, Limitation of movement at ankles, Happy demeanor,... ORPHA:98794
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia, Weight loss OMIM:275000
Fragile X Syndrome
Hyperactivity, Macrotia, Joint laxity, Self-biting OMIM:300624
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Cachexia, Ataxia, Joint hyperflexibility, Athetosis, Self-m... ORPHA:52503
Adenylosuccinase Deficiency
Gait ataxia, Hyperactivity, Aggressive behavior, Spasticity, Inability to walk, Generalized hypot... OMIM:103050
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Hypotonia, Attention deficit hyperactivity disorder OMIM:617182
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Pica, Hyperactivity, Progressive spasticity, Happy demeanor, Ataxia, Hypotonia, Hypertonia, Axial... OMIM:617865
Arthrogryposis, Distal, Type 2A
Knee flexion contracture, Wrist flexion contracture, Hip contracture, Recurrent fractures, Joint ... OMIM:193700
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Contracture of the proximal interphalangeal joint of the 5th ... OMIM:620141
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Spastic tetraparesis, Dysmetria, Diff... ORPHA:139396
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Aggressive behavior, Finger joint hypermobility, Anxiety, Emotional lability, Auto... OMIM:301069
Citrullinemia Type Ii
Hyperactivity, Memory impairment, Aggressive behavior, Irritability, Acute hyperammonemia, Hypopr... ORPHA:247585
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Hyperactivity, Macrotia, Aggressive behavior, EEG abnormality, Multifocal epileptiform discharges... ORPHA:369891
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis ORPHA:90060
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration, Dense calvaria, Hearing impairment, Hepatomegaly, Dysphagia, ... OMIM:252930
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia, Polydipsia OMIM:266900
Acrocraniofacial Dysostosis
Craniosynostosis, Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineur... OMIM:201050
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... ORPHA:90038
Epilepsy, Progressive Myoclonic, 10
Spasticity, Cognitive impairment, Spastic ataxia, Spastic tetraplegia, Ataxia, Dementia, Progress... OMIM:616640
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia OMIM:619260
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Decreased body weight, Osteopenia OMIM:608747
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity, Impulsivity, Joint hypermobility OMIM:300143
Infantile Krabbe Disease
Optic atrophy, Cachexia, Psychomotor deterioration, Failure to thrive, Decreased nerve conduction... ORPHA:206436
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Narcolepsy 3
Narcolepsy OMIM:609039
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Self-mutilation ORPHA:79233
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Dense calvaria, Hearing impairment, Hepatomegaly, Joint stiffness, Splenomegaly OMIM:252900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Sma... ORPHA:73272
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Ob... OMIM:600430
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Macrotia, Lymphopenia, Irritability ORPHA:391307
Narcolepsy 1
Narcolepsy OMIM:161400
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, Failure to thrive, Hyperactivity, EEG with burst suppression OMIM:619239
13Q12.3 Microdeletion Syndrome
Hyperactivity, Camptodactyly, Failure to thrive, Self-mutilation, Obesity, Hearing impairment ORPHA:412035
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Large earlobe, Failure to thrive, Attention deficit hyperactivity disorder, Skin-p... ORPHA:485405
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Pediatric-Onset Graves Disease
Hyperactivity, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Emotional lability... ORPHA:525731
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Facial hypotonia, Neonatal hypotonia, Dysphagia, Bradyphrenia ORPHA:589821
Narcolepsy 7
Narcolepsy OMIM:614250
Cockayne Syndrome Type 1
Anemia, Macrotia, Abnormality of peripheral nerve conduction, Foot joint contracture, Optic atrop... ORPHA:90321
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Joint laxity, Attention de... ORPHA:449291
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Hypomagnesemia, Self-biting OMIM:618314
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:617600
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Generalized hypotonia, Emotional lability, Narcolep... ORPHA:293987
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... ORPHA:760
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Cockayne Syndrome A
Sensorineural hearing impairment, Hip contracture, Optic atrophy, Abnormal auditory evoked potent... OMIM:216400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Osteomyelitis, Abnormal autonomic nervous system physiology, Emotional lability, S... OMIM:256800
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypo... OMIM:618885
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... OMIM:608836
Angelman Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Optic atrophy, EEG abnormality, Anxi... ORPHA:72
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hyperactivity, Aggressive behavior, EEG abnormality, Cachexia, Abnormal ... ORPHA:85293
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... ORPHA:36234
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Spasticity, Generalized hypotonia, Low frustration tolerance, Self-mu... OMIM:300486
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Small for gestational age, Abnormal auditory evo... OMIM:133540
Rauch-Steindl Syndrome
Hyperactivity, Aggressive behavior, Prominent crus of helix, Anxiety, Failure to thrive, Attached... OMIM:619695
Argininemia
Hyperactivity, Spastic gait, Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hepatomegaly, ... OMIM:207800
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Anemia, Hepatosplenomegaly, Decreased HDL cholesterol concentration, Decreased circulating apolip... ORPHA:85450
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials, Failure to thrive, Low-s... ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Flexion contracture, Aggressive behavior, Hyperextensibility of the finger joints,... OMIM:309520
Trisomy 10P
Absent gallbladder, Macrotia, Low voltage EEG, Small for gestational age, Abnormal auditory evoke... ORPHA:171929
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Anemia, Hyperuricemia OMIM:174000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Emotional lability OMIM:223900
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Aggressive behavior, Elbow flexion contracture, Achilles tendon contracture, Agita... OMIM:252940
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Joint hypermobility, Failure to thrive, Bone... OMIM:617052
Juvenile Nephropathic Cystinosis
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circula... ORPHA:411634
Mucopolysaccharidosis Type 3
Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ... ORPHA:581
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Prolonged neonatal jaundice, Sensorineural hearing impairmen... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Prolonged neonatal jaundice, Sensorineural hearing impairmen... ORPHA:529799
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Blepharospasm, Spasticity, Akinesia, Rigidity, Choreoathetosis, Gait disturbance, ... OMIM:234200
African Trypanosomiasis
Aggressive behavior, Akinesia, Apathy, Choreoathetosis, Gait disturbance, Narcolepsy, Difficulty ... ORPHA:3385
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Marburg Hemorrhagic Fever
Leukopenia, Aggressive behavior, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating ... ORPHA:99826
Multiple Myeloma
Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly ORPHA:29073
Choreoacanthocytosis
Hair-pulling, Blepharospasm, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... ORPHA:2388
Mucopolysaccharidosis Type 2
Hyperactivity, Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Opt... ORPHA:580
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Normocytic anemia, Elevated circulating creatinine concentration, ... ORPHA:49041
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen... ORPHA:79330
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Oligomeganephronia
Elevated circulating creatinine concentration, Polydipsia ORPHA:2260
Hemorrhagic Fever-Renal Syndrome
Anemia, Hyperphosphatemia, Hyperkalemia, Agitation, Leukocytosis, Elevated circulating creatinine... ORPHA:340
Early Infantile Epileptic Encephalopathy
Hyperactivity, Spasticity, Self-injurious behavior, EEG abnormality, EEG with burst suppression, ... ORPHA:1934
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Multiple joint contractures, Hypsarrhythmia, Dysphagia, Low-set ears... ORPHA:447997
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Septic arthritis, Anemia, Abnormality of pe... ORPHA:642
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Legius Syndrome
Hyperactivity, Cognitive impairment, Hypotonia, Attention deficit hyperactivity disorder, Dystonia ORPHA:137605
Yellow Fever
Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... ORPHA:99829
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Gait ataxia, Hyperactivity, Aggressive behavior, Protruding ear, Ataxia, Broad-based gait, Dysmet... OMIM:614756
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration, Granulomatosis ORPHA:93126
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Reduced hematocrit, Normocytic anemia, Elevated circulating C-reactive protein con... ORPHA:91500
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... 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

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MGI Allele Allele Type Produced
Ptchd1tm1a(KOMP)IcsOrl KO first allele (reporter-tagged insertion with conditional potential) Mice
Ptchd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
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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