Primary Identifier | MGI:3612978 | Allele Type | Targeted |
Attribute String | Null/knockout | Gene | Als2 |
Transmission | Germline | Strain of Origin | 129P2/OlaHsd |
Is Recombinase | false | Is Wild Type | false |
description | In J:104446, the authors state that despite the lack of phenotypic similarity to human ALS2 disease, these mice may be useful models for investigating the molecular pathogenesis of motorneuron diseases arising from ALS2 mutations. |
molecularNote | Exon 3 was replaced with a neomycin resistance gene, allowing ablation of both short and long isoforms. Transcription is still possible from the endogenous promoter, however, protein translation is terminated after the first 14 amino acids, thereby removing all of the functional domains. Western blot failed to detect protein in various tissues of mutants. |