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| Caption | Genome-wide SNP linkage analysis identified a single region of distal chromosome 5 as the site of the causal mutation. Quantitative RT-PCR analysis and DNA sequencing analysis of genes within the critical region identified a single point mutational change (Thymine to Guanine) within exon seven of the gene encoding the putative microtubule severing protein Katnal1 (a) (The mutated allele was designated Katnal11H). The point mutation within Katnal11H generates a Leucine to Valine substitution at residue 286, within the conserved ATPase AAA-Core domain of the KATNAL1 protein | ||||
| Copyright | This image is from Smith LB, PLoS Genet 2012 May;8(5):e1002697, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:185195 | ||||
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Associated Alleles |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 07/05/2024 MGI 6.24 |
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