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 Nat8l by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
N-Acetylaspartate Deficiency | Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... | OMIM:614063 |
The table below shows human diseases predicted to be associated to Nat8l by phenotypic similarity.
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 Nat8l.
There are 4 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy. | Acta neuropathologica (November 2017) | Nat8ltm1(KOMP)Vlcg | PMC5756261 |
Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy. | The Journal of neuroscience : the official journal of the Society for Neuroscience (January 2017) | Nat8ltm1(KOMP)Vlcg | PMC5242397 |
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. | Annals of neurology (March 2015) | Nat8ltm1(KOMP)Vlcg | 25712859 |
Do reductions in brain N-acetylaspartate levels contribute to the etiology of some neuropsychiatric disorders? | Journal of neuroscience research (April 2013) | Nat8ltm1(KOMP)Vlcg | 23633398 |
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 |
---|---|---|
Nat8ltm2a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Nat8ltm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
Nat8ltm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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