Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Wholemount images | heterozygote | 100% (2 of 2) |
Brain | Wholemount images | heterozygote | 100% (2 of 2) |
Brainstem | Wholemount images | heterozygote | 100% (2 of 2) |
Cartilage tissue | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebellum | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Wholemount images | heterozygote | 100% (2 of 2) |
Esophagus | Wholemount images | heterozygote | 100% (2 of 2) |
Heart | Wholemount images | heterozygote | 100% (2 of 2) |
Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
Hypothalamus | Wholemount images | heterozygote | 100% (2 of 2) |
Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
Large intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Lower urinary tract | Wholemount images | heterozygote | 100% (2 of 2) |
Lung | Wholemount images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Wholemount images | heterozygote | 100% (2 of 2) |
Ovary | Wholemount images | heterozygote | 50% (1 of 2) |
Oviduct | Wholemount images | heterozygote | 50% (1 of 2) |
Parathyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
Peripheral nervous system | Wholemount images | heterozygote | 100% (2 of 2) |
Pituitary gland | Wholemount images | heterozygote | 100% (2 of 2) |
Skeletal muscle | Wholemount images | heterozygote | 100% (2 of 2) |
Small intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Spinal cord | Wholemount images | heterozygote | 50% (1 of 2) |
Stomach | Wholemount images | heterozygote | 100% (2 of 2) |
Striatum | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Trachea | Wholemount images | heterozygote | 100% (2 of 2) |
Uterus | Wholemount images | heterozygote | 50% (1 of 2) |
Aorta | N/A | heterozygote | 0.0% (0 of 2) |
Bone | N/A | heterozygote | 0.0% (0 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Gall bladder | N/A | heterozygote | 0.0% (0 of 2) |
Liver | 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) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Pancreas | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Prostate gland | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | 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) |
Vascular system | N/A | heterozygote | 0.0% (0 of 2) |
White adipose tissue | 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 | 0.0% |
aorta | 0.0% |
bone | 0.0% |
brain | 0.0% |
brainstem | 0.0% |
brown adipose tissue | 0.0% |
cartilage tissue | 0.0% |
cerebellum | 0.0% |
cerebral cortex | 0.0% |
esophagus | 0.0% |
eye | 0.0% |
gall bladder | 0.0% |
heart | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
kidney | 0.0% |
large intestine | 0.0% |
liver | 0.0% |
lower urinary tract | 0.0% |
lung | 0.0% |
lymph node | 0.0% |
mammary gland | 0.0% |
olfactory lobe | 0.0% |
oral epithelium | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
parathyroid gland | 0.0% |
peripheral nervous system | 0.0% |
peyers patch | 0.0% |
pituitary gland | 0.0% |
prostate gland | 0.0% |
skeletal muscle | 0.0% |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
striatum | 0.0% |
testis | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
trachea | 0.0% |
uterus | 0.0% |
vascular system | 0.0% |
white adipose tissue | 0.0% |
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 Naxe by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 | Tremor, Torticollis | OMIM:617186 |
The table below shows human diseases predicted to be associated to Naxe by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Intellectual Developmental Disorder, Autosomal Recessive 54 | Exaggerated startle response | OMIM:617028 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... | OMIM:608643 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Stiff Person Spectrum Disorder | Exaggerated startle response | ORPHA:3198 | |
Gm2 Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | ORPHA:309246 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Stiff-Person Syndrome | Exaggerated startle response, Opisthotonus | OMIM:184850 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Exaggerated startle response | OMIM:609541 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Exaggerated startle response | OMIM:618598 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response | ORPHA:320406 | |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures | Tremor, Exaggerated startle response, Truncal titubation | OMIM:618056 | |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures | Exaggerated startle response | OMIM:620114 | |
Anterior Segment Dysgenesis 6 | Corneal neovascularization | OMIM:617315 | |
Gm2-Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | OMIM:272750 | |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities | Tremor, Exaggerated startle response | OMIM:620327 | |
Leukodystrophy, Hypomyelinating, 13 | Exaggerated startle response | OMIM:616881 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Exaggerated startle response | OMIM:608800 | |
Sandhoff Disease, Infantile Form | Exaggerated startle response | ORPHA:309155 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Exaggerated startle response, Dystonia | ORPHA:438216 | |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities | Exaggerated startle response | OMIM:617864 | |
Tay-Sachs Disease | Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia | ORPHA:845 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Sandhoff Disease | Exaggerated startle response | OMIM:268800 | |
Developmental And Epileptic Encephalopathy 49 | Exaggerated startle response | OMIM:617281 | |
Plaa-Associated Neurodevelopmental Disorder | Exaggerated startle response, Dystonia | ORPHA:521426 | |
Gm1 Gangliosidosis Type 1 | Exaggerated startle response, Dystonia | ORPHA:79255 | |
Asparagine Synthetase Deficiency | Tremor, Exaggerated startle response | OMIM:615574 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Exaggerated startle response | OMIM:253800 | |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies | Exaggerated startle response | OMIM:617527 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Exaggerated startle response, Dystonia | ORPHA:438213 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Exaggerated startle response | OMIM:619522 | |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 | Tremor, Torticollis | OMIM:617186 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Naxetm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
Naxetm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Naxetm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
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