Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 | Cdc37em1(IMPC)J | HET | Early adult | 2.08×10-05 | ||
preweaning lethality, complete penetrance | Cdc37em1(IMPC)J | HOM | Early adult | 0.00 | ||
embryonic lethality prior to organogenesis | Cdc37em1(IMPC)J | HOM | E9.5 | 0.00 | ||
increased startle reflex | Cdc37em1(IMPC)J | HET | Early adult | 4.09×10-07 |
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 predicted to be associated to Cdc37 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Attention Deficit-Hyperactivity Disorder | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:143465 | |
Intellectual Developmental Disorder, Autosomal Recessive 54 | Hyperactivity | OMIM:617028 | |
Schizophrenia 15 | Hyperactivity | OMIM:613950 | |
Mental Retardation, Autosomal Dominant 45 | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:617600 | |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) | Hyperactivity | DECIPHER:20 | |
Mental Retardation, Autosomal Recessive 2 | Attention deficit hyperactivity disorder | OMIM:607417 | |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) | Hyperactivity | DECIPHER:19 | |
Mental Retardation, Autosomal Recessive 3 | Hyperactivity | OMIM:608443 | |
Autism, Susceptibility To, 20 | Attention deficit hyperactivity disorder | OMIM:618830 | |
Immunodeficiency 8 | Hyperactivity | OMIM:615401 | |
Microcephaly 25, Primary, Autosomal Recessive | Attention deficit hyperactivity disorder | OMIM:618351 | |
Developmental And Epileptic Encephalopathy 43 | Hyperactivity, Ataxia | OMIM:617113 | |
Mental Retardation, Autosomal Dominant 52 | Hyperactivity | OMIM:617796 | |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum | Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk | OMIM:618090 | |
Mental Retardation, Autosomal Dominant 33 | Hyperactivity | OMIM:616311 | |
Mental Retardation, Autosomal Recessive 37 | Hyperactivity | OMIM:615493 | |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly | Hyperactivity, Inability to walk | OMIM:616657 | |
Mental Retardation, X-Linked 77 | Hyperactivity | OMIM:300454 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Hyperactivity | ORPHA:356996 | |
Intellectual Developmental Disorder, Autosomal Recessive 74 | Hyperactivity | OMIM:617169 | |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome | Hyperactivity | ORPHA:436151 | |
Intellectual Developmental Disorder, X-Linked 72 | Hyperactivity | OMIM:300271 | |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:617182 | |
Encephalopathy, Progressive, With Or Without Lipodystrophy | Hyperactivity, Dystonia, Ataxia, Tremor | OMIM:615924 | |
Smith-Magenis syndrome | Hyperactivity | DECIPHER:8 | |
Microcephaly, Seizures, And Developmental Delay | Hyperactivity, Ataxia | OMIM:613402 | |
Insulin-Like Growth Factor I Deficiency | Hyperactivity | OMIM:608747 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:301008 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Intellectual Developmental Disorder, X-Linked 104 | Tremor, Hyperactivity, Ataxia | OMIM:300983 | |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities | Tremor, Hyperactivity, Broad-based gait | OMIM:619470 | |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency | Hyperactivity, Dystonia, Ataxia, Tremor | OMIM:612716 | |
Aminoacylase 1 Deficiency | Hyperactivity | OMIM:609924 | |
Intellectual Developmental Disorder, X-Linked 101 | Hyperactivity | OMIM:300928 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Juvenile Huntington Disease | Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... | ORPHA:248111 | |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies | Hyperactivity | OMIM:619031 | |
8p23.1 deletion syndrome | Hyperactivity | DECIPHER:39 | |
X-Linked Intellectual Disability, Stocco Dos Santos Type | Hyperactivity | ORPHA:85288 | |
Hyperprolinemia, Type I | Hyperactivity, Ataxia | OMIM:239500 | |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations | Hyperactivity | OMIM:604317 | |
Glycine Encephalopathy | Hyperactivity, Lethargy | OMIM:605899 | |
Morm Syndrome | Hyperactivity | ORPHA:75858 | |
Mannosidosis, Beta A, Lysosomal | Hyperactivity | OMIM:248510 | |
Dihydropyrimidine Dehydrogenase Deficiency | Hyperactivity, Lethargy | OMIM:274270 | |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome | Shuffling gait, Tremor, Hyperactivity, Resting tremor, Broad-based gait | ORPHA:3077 | |
Intellectual Developmental Disorder, X-Linked 109 | Hyperactivity | OMIM:309548 | |
Fraxe Intellectual Disability | Hyperactivity | ORPHA:100973 | |
Intellectual Developmental Disorder, Autosomal Recessive 39 | Hyperactivity | OMIM:615541 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type | Hyperactivity | OMIM:300434 | |
Mental Retardation, Autosomal Dominant 43 | Hyperactivity | OMIM:616977 | |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia | Tremor, Hyperactivity, Inability to walk | OMIM:618718 | |
Chromosome 3Q29 Deletion Syndrome | Hyperactivity, Gait ataxia | OMIM:609425 | |
Xq25 Microduplication Syndrome | Hyperactivity | ORPHA:521258 | |
Coffin-Siris Syndrome 8 | Hyperactivity | OMIM:618362 | |
Chromosome Xq25 Duplication Syndrome | Hyperactivity | OMIM:300979 | |
Lennox-Gastaut Syndrome | Hyperactivity, Falls | ORPHA:2382 | |
Hyperlysinemia, Type I | Hyperactivity | OMIM:238700 | |
Cln5 Disease | Dysmetria, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, ... | ORPHA:228360 | |
Stiff Person Spectrum Disorder | Exaggerated startle response, Falls, Difficulty walking | ORPHA:3198 | |
Optic Atrophy 11 | Dysmetria, Hyperactivity, Ataxia | OMIM:617302 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Severe Neurodegenerative Syndrome With Lipodystrophy | Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia | ORPHA:363400 | |
Phenylketonuria | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:261600 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Guanidinoacetate Methyltransferase Deficiency | Hyperactivity, Dystonia, Athetosis, Ataxia | ORPHA:382 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Ataxia, Exaggerated startle response | OMIM:618598 | |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 | Hyperactivity, Ataxia, Broad-based gait | ORPHA:411515 | |
Gand Syndrome | Hyperactivity | OMIM:615074 | |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features | Unsteady gait, Hyperactivity, Broad-based gait | OMIM:617865 | |
Intellectual Developmental Disorder, Autosomal Recessive 71 | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:618504 | |
Landau-Kleffner Syndrome | Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia | ORPHA:98818 | |
Clark-Baraitser Syndrome | Hyperactivity | OMIM:617752 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... | OMIM:608643 | |
Histidinemia | Hyperactivity | ORPHA:2157 | |
Mental Retardation, Autosomal Recessive 13 | Hyperactivity | OMIM:613192 | |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome | Hyperactivity, Broad-based gait | ORPHA:457260 | |
Intellectual Developmental Disorder, Autosomal Recessive 38 | Unsteady gait, Hyperactivity | OMIM:615516 | |
Myoclonic-Astatic Epilepsy | Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder | ORPHA:1942 | |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder | Hyperactivity, Dystonia, Inability to walk, Gait ataxia | ORPHA:500180 | |
Intellectual Developmental Disorder, X-Linked 107 | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:301013 | |
Gm2 Gangliosidosis, Ab Variant | Dystonia, Exaggerated startle response | ORPHA:309246 | |
Succinic Semialdehyde Dehydrogenase Deficiency | Hyperactivity, Ataxia | OMIM:271980 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response, Difficulty walking | ORPHA:320406 | |
Rasmussen Subacute Encephalitis | Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk | ORPHA:1929 | |
Chromosome 15Q25 Deletion Syndrome | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:614294 | |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome | Hyperactivity | ORPHA:397973 | |
Neurodegeneration With Brain Iron Accumulation 2B | Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Gait ataxia | OMIM:610217 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 | Hyperactivity | OMIM:615824 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type | Hyperactivity, Broad-based gait | OMIM:300958 | |
Gm2-Gangliosidosis, Ab Variant | Dystonia, Exaggerated startle response | OMIM:272750 | |
Graves Disease, Susceptibility To, 1 | Hyperactivity | OMIM:275000 | |
Myopathy With Extrapyramidal Signs | Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking | OMIM:615673 | |
Fragile X Syndrome | Hyperactivity | OMIM:300624 | |
Intellectual Developmental Disorder, X-Linked 21 | Hyperactivity | OMIM:300143 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Dystonia, Ataxia, Exaggerated startle response, Broad-based gait | ORPHA:438216 | |
X-Linked Creatine Transporter Deficiency | Hyperactivity, Dystonia, Athetosis, Ataxia | ORPHA:52503 | |
Female Restricted Epilepsy With Intellectual Disability | Hyperactivity | ORPHA:101039 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Exaggerated startle response | OMIM:609541 | |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome | Hyperactivity | ORPHA:85327 | |
Infantile Neuroaxonal Dystrophy | Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait | ORPHA:35069 | |
Hypomagnesemia, Seizures, And Mental Retardation 2 | Hyperactivity | OMIM:618314 | |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion | Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait | ORPHA:98794 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Adenylosuccinase Deficiency | Hyperactivity, Inability to walk, Gait ataxia, Opisthotonus | OMIM:103050 | |
Familial Gestational Hyperthyroidism | Hyperactivity, Hand tremor | ORPHA:99819 | |
Neurodevelopmental Disorder With Or Without Autism Or Seizures | Hyperactivity | OMIM:619239 | |
Angelman Syndrome | Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait | OMIM:105830 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor | Hyperactivity, Hand tremor | ORPHA:424 | |
Tay-Sachs Disease | Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... | ORPHA:845 | |
Stiff-Person Syndrome | Opisthotonus, Exaggerated startle response | OMIM:184850 | |
X-Linked Adrenoleukodystrophy | Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder | ORPHA:43 | |
Hyperthyroidism, Nonautoimmune | Hyperactivity | OMIM:609152 | |
Pitt-Hopkins-Like Syndrome 1 | Hyperactivity, Ataxia | OMIM:610042 | |
Mucopolysaccharidosis, Type Iiia | Hyperactivity | OMIM:252900 | |
X-Linked Cerebral Adrenoleukodystrophy | Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking | ORPHA:139396 | |
Sandhoff Disease | Ataxia, Exaggerated startle response | OMIM:268800 | |
Neurodegeneration With Brain Iron Accumulation 1 | Dystonia, Gait disturbance, Bradykinesia, Tremor, Hyperactivity, Ataxia, Akinesia, Blepharospasm | OMIM:234200 | |
Spastic Paraplegia 29, Autosomal Dominant | Hyperactivity | OMIM:609727 | |
Asparagine Synthetase Deficiency | Exaggerated startle response | OMIM:615574 | |
Citrullinemia Type Ii | Tremor, Hyperactivity, Lethargy | ORPHA:247585 | |
47,Xyy Syndrome | Hyperactivity, Attention deficit hyperactivity disorder | ORPHA:8 | |
Hyperlysinemia | Opisthotonus, Dysmetria, Tremor, Hyperactivity, Tip-toe gait | ORPHA:2203 | |
Brain-Lung-Thyroid Syndrome | Dystonia, Falls, Intention tremor, Hyperactivity, Ataxia | ORPHA:209905 | |
Purine Nucleoside Phosphorylase Deficiency | Hyperactivity, Ataxia | ORPHA:760 | |
Plaa-Associated Neurodevelopmental Disorder | Dystonia, Exaggerated startle response | ORPHA:521426 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Legius Syndrome | Hyperactivity, Dystonia, Attention deficit hyperactivity disorder | ORPHA:137605 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Exaggerated startle response | OMIM:253800 | |
Gm1 Gangliosidosis Type 1 | Exaggerated startle response | ORPHA:79255 | |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies | Exaggerated startle response | OMIM:617527 | |
Argininemia | Hyperactivity, Spastic gait | OMIM:207800 | |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities | Dysmetria, Hyperactivity, Unsteady gait, Ataxia | OMIM:614756 | |
Choreoacanthocytosis | Head titubation, Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Falls, Bradykinesi... | ORPHA:2388 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait | ORPHA:438213 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Attention deficit hyperactivity disorder, Exaggerated startle response | OMIM:619522 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Cdc37tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Cdc37tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Cdc37em1(IMPC)J | Exon Deletion | Mice |
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