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.
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 Zfp612 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 | |
Mental Retardation, Autosomal Dominant 33 | Hyperactivity | OMIM:616311 | |
Insulin-Like Growth Factor I Deficiency | Hyperactivity, Osteopenia | OMIM:608747 | |
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 | |
Smith-Magenis syndrome | Hyperactivity | DECIPHER:8 | |
Microcephaly, Seizures, And Developmental Delay | Hyperactivity, Ataxia | OMIM:613402 | |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum | Dysmetria, Gait disturbance, Inability to walk, Hyperactivity | OMIM:618090 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:301008 | |
Aminoacylase 1 Deficiency | Hyperactivity | OMIM:609924 | |
Intellectual Developmental Disorder, X-Linked 101 | Hyperactivity | OMIM:300928 | |
Juvenile Huntington Disease | Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... | ORPHA:248111 | |
Encephalopathy, Progressive, With Or Without Lipodystrophy | Hyperactivity, Dystonia, Ataxia | OMIM:615924 | |
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 | |
Intellectual Developmental Disorder, X-Linked 104 | Hyperactivity, Ataxia | OMIM:300983 | |
Intellectual Developmental Disorder, X-Linked 109 | Hyperactivity | OMIM:309548 | |
Fraxe Intellectual Disability | Hyperactivity | ORPHA:100973 | |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities | Hyperactivity, Broad-based gait | OMIM:619470 | |
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 | |
Chromosome 3Q29 Deletion Syndrome | Hyperactivity, Gait ataxia | OMIM:609425 | |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency | Hyperactivity, Dystonia, Ataxia | OMIM:612716 | |
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 | |
Ck Syndrome | Hyperactivity, Abnormal cortical bone morphology | OMIM:300831 | |
Optic Atrophy 11 | Dysmetria, Hyperactivity, Ataxia | OMIM:617302 | |
Phenylketonuria | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:261600 | |
Guanidinoacetate Methyltransferase Deficiency | Hyperactivity, Dystonia, Athetosis, Ataxia | ORPHA:382 | |
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 | |
Cln5 Disease | Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... | ORPHA:228360 | |
Clark-Baraitser Syndrome | Hyperactivity | OMIM:617752 | |
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 | |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia | Hyperactivity, Inability to walk | OMIM:618718 | |
Intellectual Developmental Disorder, Autosomal Recessive 38 | Unsteady gait, Hyperactivity | OMIM:615516 | |
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 | |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome | Hyperactivity, Shuffling gait, Broad-based gait | ORPHA:3077 | |
Succinic Semialdehyde Dehydrogenase Deficiency | Hyperactivity, Ataxia | OMIM:271980 | |
Severe Neurodegenerative Syndrome With Lipodystrophy | Hyperactivity, Gait ataxia, Ataxia, Limb dystonia | ORPHA:363400 | |
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 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 | Hyperactivity | OMIM:615824 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type | Hyperactivity, Broad-based gait | OMIM:300958 | |
Graves Disease, Susceptibility To, 1 | Hyperactivity | OMIM:275000 | |
Mucopolysaccharidosis, Type Iiia | Hyperactivity, Dense calvaria | OMIM:252900 | |
Fragile X Syndrome | Hyperactivity | OMIM:300624 | |
Intellectual Developmental Disorder, X-Linked 21 | Hyperactivity | OMIM:300143 | |
Myoclonic-Astatic Epilepsy | Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia | ORPHA:1942 | |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency | Hyperactivity, Attention deficit hyperactivity disorder, Osteoporosis | ORPHA:73272 | |
X-Linked Creatine Transporter Deficiency | Hyperactivity, Dystonia, Athetosis, Ataxia | ORPHA:52503 | |
Female Restricted Epilepsy With Intellectual Disability | Hyperactivity | ORPHA:101039 | |
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 | |
Mucopolysaccharidosis, Type Iiib | Hyperactivity, Dense calvaria | OMIM:252920 | |
Neurodevelopmental Disorder With Or Without Autism Or Seizures | Hyperactivity | OMIM:619239 | |
Neurodegeneration With Brain Iron Accumulation 2B | Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia | OMIM:610217 | |
Mucopolysaccharidosis, Type Iiic | Hyperactivity, Dense calvaria | OMIM:252930 | |
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 | |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion | Ataxia, Hyperactivity, Gait imbalance, Broad-based gait | ORPHA:98794 | |
X-Linked Cerebral Adrenoleukodystrophy | Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking | ORPHA:139396 | |
Spastic Paraplegia 29, Autosomal Dominant | Hyperactivity | OMIM:609727 | |
47,Xyy Syndrome | Hyperactivity, Attention deficit hyperactivity disorder | ORPHA:8 | |
Purine Nucleoside Phosphorylase Deficiency | Hyperactivity, Ataxia | ORPHA:760 | |
Neurodegeneration With Brain Iron Accumulation 1 | Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm | OMIM:234200 | |
Familial Gestational Hyperthyroidism | Hyperactivity | ORPHA:99819 | |
Legius Syndrome | Hyperactivity, Dystonia, Attention deficit hyperactivity disorder | ORPHA:137605 | |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor | Hyperactivity | ORPHA:424 | |
Argininemia | Hyperactivity, Spastic gait | OMIM:207800 | |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities | Dysmetria, Hyperactivity, Unsteady gait, Ataxia | OMIM:614756 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Zfp612em1(IMPC)J | Exon Deletion | Mice |
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