Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 Atrx by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Neuroendocrine Tumor Of Stomach | Weight loss | ORPHA:100075 | |
Cushing Disease | Fatiguable weakness of proximal limb muscles, Increased body weight, Truncal obesity, Abdominal o... | ORPHA:96253 | |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked | Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect | OMIM:301040 | |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 | Obesity | OMIM:309580 | |
Alpha-Thalassemia-Myelodysplastic Syndrome | ORPHA:231401 | ||
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome | ORPHA:847 | ||
Alpha-Thalassemia Myelodysplasia Syndrome | OMIM:300448 |
The table below shows human diseases predicted to be associated to Atrx by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Neuroendocrine Tumor Of Stomach | Weight loss | ORPHA:100075 | |
Cushing Disease | Fatiguable weakness of proximal limb muscles, Increased body weight, Truncal obesity, Abdominal o... | ORPHA:96253 | |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked | Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect | OMIM:301040 | |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 | Obesity | OMIM:309580 | |
Alpha-Thalassemia-Myelodysplastic Syndrome | ORPHA:231401 | ||
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome | ORPHA:847 | ||
Alpha-Thalassemia Myelodysplasia Syndrome | OMIM:300448 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
MGI Allele | Allele Type | Produced |
---|---|---|
Atrxtm47829(pL1L2_GT1_DelLacZ_bsd) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Atrxtm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Atrxtm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter