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.
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | Section images | heterozygote | 100% (2 of 2) |
Brainstem | Section images | heterozygote | 100% (2 of 2) |
Cerebellum | Section images | heterozygote | 100% (2 of 2) |
Kidney | Section images | heterozygote | 100% (2 of 2) |
Midbrain | Section images | heterozygote | 100% (2 of 2) |
Ovary | Section images | heterozygote | 50% (1 of 2) |
Submandibular gland | Section images | heterozygote | 50% (1 of 2) |
Testis | Section images | heterozygote | 50% (1 of 2) |
Adrenal gland | N/A | heterozygote | 0.0% (0 of 2) |
Aorta | N/A | heterozygote | 0.0% (0 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cartilage tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cerebral cortex | N/A | heterozygote | 0.0% (0 of 2) |
Epididymis | N/A | heterozygote | 0.0% (0 of 2) |
Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 2) |
Hippocampus | N/A | heterozygote | 0.0% (0 of 2) |
Hypothalamus | N/A | heterozygote | 0.0% (0 of 2) |
Large intestine | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | Not available |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Olfactory lobe | N/A | heterozygote | 0.0% (0 of 2) |
Oviduct | N/A | heterozygote | Not available |
Pancreas | N/A | heterozygote | 0.0% (0 of 2) |
Peripheral nervous system | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 2) |
Prostate gland | N/A | heterozygote | Not available |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Small intestine | N/A | heterozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach | N/A | heterozygote | 0.0% (0 of 2) |
Striatum | N/A | heterozygote | 0.0% (0 of 2) |
Thalamus | N/A | heterozygote | 0.0% (0 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
Thyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
Urinary bladder | N/A | heterozygote | 0.0% (0 of 2) |
Uterus | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | 0.0% (0 of 2) |
Vesicular gland | N/A | heterozygote | Not available |
White adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | N/A | heterozygote | 0.0% (0 of 2) |
Dorsal root ganglion | N/A | heterozygote | 0.0% (0 of 2) |
Ear | N/A | heterozygote | 0.0% (0 of 2) |
Embryo | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Footplate | N/A | heterozygote | 0.0% (0 of 2) |
Forebrain | N/A | heterozygote | 0.0% (0 of 2) |
Forelimb | N/A | heterozygote | 0.0% (0 of 2) |
Fronto-nasal process | N/A | heterozygote | 0.0% (0 of 2) |
Handplate | N/A | heterozygote | 0.0% (0 of 2) |
Head | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 2) |
Hindbrain | N/A | heterozygote | 0.0% (0 of 2) |
Hindlimb | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Mandibular process | N/A | heterozygote | 0.0% (0 of 2) |
Maxillary process | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 0.0% (0 of 2) |
Nose | N/A | heterozygote | 0.0% (0 of 2) |
Oral cavity | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 2) |
Tail somite | N/A | heterozygote | 0.0% (0 of 2) |
Tail | N/A | heterozygote | 0.0% (0 of 2) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.7% (4 of 573) |
aorta | 0.18% (1 of 571) |
brain | 0.53% (3 of 570) |
brainstem | 0.35% (2 of 564) |
brown adipose tissue | 0.0% |
cartilage tissue | 0.18% (1 of 569) |
cerebellum | 0.53% (3 of 565) |
cerebral cortex | 0.35% (2 of 565) |
epididymis | 13.08% (17 of 130) |
esophagus | 1.8% (7 of 389) |
eye | 0.0% |
heart | 0.35% (2 of 566) |
hippocampus | 0.53% (3 of 571) |
hypothalamus | 0.36% (2 of 560) |
kidney | 3.72% (21 of 565) |
large intestine | 1.78% (10 of 561) |
liver | 0.0% |
lower urinary tract | 0.0% |
lung | 0.35% (2 of 577) |
lymph node | 0.18% (1 of 566) |
mammary gland | 0.0% |
midbrain | 0.0% |
olfactory lobe | 0.18% (1 of 553) |
ovary | 0.18% (1 of 566) |
oviduct | 0.0% |
pancreas | 0.89% (5 of 559) |
peripheral nervous system | 0.35% (2 of 574) |
peyers patch | 0.0% |
pituitary gland | 0.18% (1 of 570) |
prostate gland | 1.77% (10 of 564) |
skeletal muscle | 0.0% |
skin | 0.18% (1 of 563) |
small intestine | 1.59% (9 of 565) |
spinal cord | 0.53% (3 of 566) |
spleen | 0.53% (3 of 566) |
stomach | 2.12% (12 of 565) |
striatum | 0.53% (3 of 567) |
submandibular gland | 1.56% (2 of 128) |
testis | 1.05% (6 of 572) |
thalamus | 0.0% |
thymus | 0.18% (1 of 567) |
thyroid gland | 2.84% (16 of 563) |
trachea | 0.53% (3 of 562) |
urinary bladder | 0.0% |
uterus | 0.0% |
vascular system | 0.0% |
vesicular gland | 0.0% |
white adipose tissue | 0.0% |
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
Anatomy | Background staining in controls(WT) |
---|---|
brain | 1.18% (6 of 508) |
dorsal root ganglion | 1.67% (1 of 60) |
ear | 0.2% (1 of 508) |
embryo | 0.2% (1 of 509) |
eye | 0.2% (1 of 508) |
footplate | 0.2% (1 of 508) |
forebrain | 0.2% (1 of 508) |
forelimb | 0.2% (1 of 508) |
fronto-nasal process | 1.64% (1 of 61) |
handplate | 0.2% (1 of 508) |
head | 0.98% (5 of 508) |
heart | 0.2% (1 of 508) |
hindbrain | 1.18% (6 of 508) |
hindlimb | 0.2% (1 of 508) |
liver | 0.2% (1 of 503) |
lung | 0.2% (1 of 503) |
mandibular process | 0.2% (1 of 508) |
maxillary process | 0.2% (1 of 508) |
midbrain | 0.2% (1 of 508) |
nose | 1.28% (1 of 78) |
oral cavity | 0.2% (1 of 503) |
skin | 0.2% (1 of 508) |
spinal cord | 1.39% (1 of 72) |
tail | 0.2% (1 of 508) |
tail somite group | 0.2% (1 of 508) |
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 Pde4c 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 | |
Immunodeficiency 8 | Hyperactivity | OMIM:615401 | |
Autism, Susceptibility To, 20 | Attention deficit hyperactivity disorder | OMIM:618830 | |
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 | |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly | Hyperactivity, Inability to walk | OMIM:616657 | |
Mental Retardation, Autosomal Recessive 37 | Hyperactivity | OMIM:615493 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Hyperactivity | ORPHA:356996 | |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome | Hyperactivity | ORPHA:436151 | |
Intellectual Developmental Disorder, X-Linked 72 | Hyperactivity | OMIM:300271 | |
Intellectual Developmental Disorder, Autosomal Recessive 74 | Hyperactivity | OMIM:617169 | |
Encephalopathy, Progressive, With Or Without Lipodystrophy | Hyperactivity, Dystonia, Ataxia, Tremor | OMIM:615924 | |
Mental Retardation, X-Linked 77 | Hyperactivity | OMIM:300454 | |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:617182 | |
Microcephaly, Seizures, And Developmental Delay | Hyperactivity, Ataxia | OMIM:613402 | |
Smith-Magenis syndrome | Hyperactivity | DECIPHER:8 | |
Insulin-Like Growth Factor I Deficiency | Hyperactivity | OMIM:608747 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:301008 | |
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 | |
Aminoacylase 1 Deficiency | Hyperactivity | OMIM:609924 | |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency | Hyperactivity, Dystonia, Ataxia, Tremor | OMIM:612716 | |
Juvenile Huntington Disease | Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... | ORPHA:248111 | |
Intellectual Developmental Disorder, X-Linked 101 | Hyperactivity | OMIM:300928 | |
X-Linked Intellectual Disability, Stocco Dos Santos Type | Hyperactivity | ORPHA:85288 | |
Hyperprolinemia, Type I | Hyperactivity, Ataxia | OMIM:239500 | |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies | Hyperactivity | OMIM:619031 | |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations | Hyperactivity | OMIM:604317 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Glycine Encephalopathy | Hyperactivity, Lethargy | OMIM:605899 | |
8p23.1 deletion syndrome | Hyperactivity | DECIPHER:39 | |
Mannosidosis, Beta A, Lysosomal | Hyperactivity | OMIM:248510 | |
Morm Syndrome | Hyperactivity | ORPHA:75858 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
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, X-Linked, Syndromic, Stocco Dos Santos Type | Hyperactivity | OMIM:300434 | |
Intellectual Developmental Disorder, Autosomal Recessive 39 | Hyperactivity | OMIM:615541 | |
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 | |
Coffin-Siris Syndrome 8 | Hyperactivity | OMIM:618362 | |
Xq25 Microduplication Syndrome | Hyperactivity | ORPHA:521258 | |
Chromosome Xq25 Duplication Syndrome | Hyperactivity | OMIM:300979 | |
Lennox-Gastaut Syndrome | Hyperactivity, Falls | ORPHA:2382 | |
Cln5 Disease | Dysmetria, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, ... | ORPHA:228360 | |
Optic Atrophy 11 | Dysmetria, Hyperactivity, Ataxia | OMIM:617302 | |
Stiff Person Spectrum Disorder | Exaggerated startle response, Falls, Difficulty walking | ORPHA:3198 | |
Hyperlysinemia, Type I | Hyperactivity | OMIM:238700 | |
Severe Neurodegenerative Syndrome With Lipodystrophy | Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia | ORPHA:363400 | |
Phenylketonuria | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:261600 | |
Gand Syndrome | Hyperactivity | OMIM:615074 | |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 | Hyperactivity, Ataxia, Broad-based gait | ORPHA:411515 | |
Guanidinoacetate Methyltransferase Deficiency | Hyperactivity, Dystonia, Athetosis, Ataxia | ORPHA:382 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Ataxia, Exaggerated startle response | OMIM:618598 | |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features | Unsteady gait, Hyperactivity, Broad-based gait | OMIM:617865 | |
Landau-Kleffner Syndrome | Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia | ORPHA:98818 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... | OMIM:608643 | |
Intellectual Developmental Disorder, Autosomal Recessive 71 | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:618504 | |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome | Hyperactivity, Broad-based gait | ORPHA:457260 | |
Mental Retardation, Autosomal Recessive 13 | Hyperactivity | OMIM:613192 | |
Myoclonic-Astatic Epilepsy | Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder | ORPHA:1942 | |
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 | |
Succinic Semialdehyde Dehydrogenase Deficiency | Hyperactivity, Ataxia | OMIM:271980 | |
Gm2 Gangliosidosis, Ab Variant | Dystonia, Exaggerated startle response | ORPHA:309246 | |
Rasmussen Subacute Encephalitis | Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk | ORPHA:1929 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response, Difficulty walking | ORPHA:320406 | |
Chromosome 15Q25 Deletion Syndrome | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:614294 | |
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 | |
Myopathy With Extrapyramidal Signs | Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking | OMIM:615673 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type | Hyperactivity, Broad-based gait | OMIM:300958 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Fragile X Syndrome | Hyperactivity | OMIM:300624 | |
Gm2-Gangliosidosis, Ab Variant | Dystonia, Exaggerated startle response | OMIM:272750 | |
Intellectual Developmental Disorder, X-Linked 21 | Hyperactivity | OMIM:300143 | |
Graves Disease, Susceptibility To, 1 | Hyperactivity | OMIM:275000 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Histidinemia | Hyperactivity | ORPHA:2157 | |
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 | |
Infantile Neuroaxonal Dystrophy | Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait | ORPHA:35069 | |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion | Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait | ORPHA:98794 | |
Adenylosuccinase Deficiency | Hyperactivity, Inability to walk, Gait ataxia, Opisthotonus | OMIM:103050 | |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome | Hyperactivity | ORPHA:85327 | |
Hypomagnesemia, Seizures, And Mental Retardation 2 | Hyperactivity | OMIM:618314 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Neurodevelopmental Disorder With Or Without Autism Or Seizures | Hyperactivity | OMIM:619239 | |
Angelman Syndrome | Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait | OMIM:105830 | |
Familial Gestational Hyperthyroidism | Hyperactivity, Hand tremor | ORPHA:99819 | |
Tay-Sachs Disease | Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... | ORPHA:845 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor | Hyperactivity, Hand tremor | ORPHA:424 | |
Stiff-Person Syndrome | Opisthotonus, Exaggerated startle response | OMIM:184850 | |
X-Linked Adrenoleukodystrophy | Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder | ORPHA:43 | |
Pitt-Hopkins-Like Syndrome 1 | Hyperactivity, Ataxia | OMIM:610042 | |
X-Linked Cerebral Adrenoleukodystrophy | Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking | ORPHA:139396 | |
Hyperthyroidism, Nonautoimmune | Hyperactivity | OMIM:609152 | |
Sandhoff Disease | Ataxia, Exaggerated startle response | OMIM:268800 | |
Mucopolysaccharidosis, Type Iiia | Hyperactivity | OMIM:252900 | |
Neurodegeneration With Brain Iron Accumulation 1 | Dystonia, Gait disturbance, Bradykinesia, Tremor, Hyperactivity, Ataxia, Akinesia, Blepharospasm | OMIM:234200 | |
Asparagine Synthetase Deficiency | Exaggerated startle response | OMIM:615574 | |
Citrullinemia Type Ii | Tremor, Hyperactivity, Lethargy | ORPHA:247585 | |
Spastic Paraplegia 29, Autosomal Dominant | Hyperactivity | OMIM:609727 | |
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 | |
Plaa-Associated Neurodevelopmental Disorder | Dystonia, Exaggerated startle response | ORPHA:521426 | |
Purine Nucleoside Phosphorylase Deficiency | Hyperactivity, Ataxia | ORPHA:760 | |
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 |
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 Pde4c.
There are 3 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Assessment of PDE4 Inhibitor-Induced Hypothermia as a Correlate of Nausea in Mice. | Biology (December 2021) | Pde4ctm1.1(KOMP)Wtsi | PMC8698290 |
The cAMP-phosphodiesterase 4 (PDE4) controls β-adrenoceptor- and CFTR-dependent saliva secretion in mice. | The Biochemical journal (May 2021) | Pde4ctm1.1(KOMP)Wtsi | 33944911 |
Inhibition of cAMP-phosphodiesterase 4 (PDE4) potentiates the anesthetic effects of Isoflurane in mice. | Biochemical pharmacology (February 2021) | Pde4ctm1.1(KOMP)Wtsi | 33609559 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Pde4ctm1.1(KOMP)Wtsi | Reporter-tagged deletion allele (post Cre, with no selection cassette) | Mice |
Pde4ctm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Pde4ctm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Pde4ctm1(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice, Targeting vectors, ES Cells |
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