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6,171 results for “mutant”
Data from: A caste differentiation mutant elucidates the evolution of socially parasitic ants
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Fluorescence images of ybx1 mutant neuromasts [time course, wt]
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Autism-like atypical face processing in Shank3 mutant dogs
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Fluorescence images of ybx1 mutant neuromasts [time course, het]
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Data from: Lorcaserin-induced rat mammary mutants quantified by CarcSeq
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Fluorescence images of ybx1 mutant neuromasts [incross]
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Whole genome sequence data of Mycobacterium tuberculosis and Mycolicibacterium smegmatis mutants of the riboflavin biosynthetic pathway- Part 2
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Fluorescence images of ybx1 mutant neuromasts [Ybx1 immunofluorescence]
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Chemical-genetic interrogation of RNA polymerase mutants reveals structure-function relationships and physiological tradeoffs
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chr10 of TgN(38-40) mutant genome used in Willemin et al. 2021.
<p>chr10 of TgN(38-40) mutant genome used in Willemin et al. 2021. Built from chr10 of mm10 (UCSC) and modified with information from TLA and MinION sequencing.</p>
Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency
Human sepiapterin reductase deficiency is an inherited disease caused by SPR gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm lemon mutant could serve as a model of sepiapterin reductase deficiency. A point mutation in the BmSPR gene led to a five amino acid deletion at the carboxyl terminus in the lemon mutant. In addition, classical phenotypes seen in sepiapterin reductase deficient patients were observed in the lemon mutant, including a normal phenylalanine level, a decreased dopamine and serotonin content, and an increased neopterin level. A recovery test showed that replenishment of L-dopa significantly increased the dopamine level in the lemon mutant. The silkworm lemon mutant also showed negative behavioral abilities. These results suggest that the silkworm lemon mutant has an appropriate genetic basis and meets the biochemical requirements to be a model of sepiapterin reductase deficiency. Thus, the silkworm lemon mutant can serve as a candidate animal model of sepiapterin reductase deficiency, which may be helpful in facilitating accurate diagnosis and effective treatment options of sepiapterin reductase deficiency.
Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency
<p><span>Human sepiapterin reductase deficiency is an inherited disease caused by <i>SPR</i> gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm <i>lemon<sup> </sup></i>mutant could serve as a model of sepiapterin reductase deficiency. A point mutation in the<i> BmSPR</i> gene led to a five amino acid deletion at the carboxyl terminus in the <i>lemon</i> mutant. In addition, classical phenotypes seen in sepiapterin reductase deficient patients were observed in the <i>lemon</i> mutant, including a normal phenylalanine level, a decreased dopamine and serotonin content, and an increased neopterin level. A recovery test showed that replenishment of L-dopa significantly increased the dopamine level in the <i>lemon<sup> </sup></i>mutant. The silkworm <i>lemon</i> mutant also showed negative behavioral abilities. These results suggest that the silkworm <i>lemon</i> mutant has an appropriate genetic basis and meets the biochemical requirements to be a model of sepiapterin reductase deficiency. Thus, the silkworm <i>lemon</i> mutant can serve as a candidate animal model of sepiapterin reductase deficiency, which may be helpful in facilitating accurate diagnosis and effective treatment options of sepiapterin reductase deficiency.</span></p>
Parallel reverse genetic screening in mutant human cells using transcriptomics - Data and analyses
<p>This dataset contains data files and analysis code associated with manuscript entitled "Parallel reverse genetic screening in mutant human cells using transcriptomics".</p> <p>Data files include expression profiles for over 1800 RNA-seq samples and annotations.</p> <p>Analysis files include R scripts to generate summary figures.</p>
Dataset 1: All homozygous mutant embryo phenotypes from lethal and sub-viable lines scored by DMDD to date (Nov 2016)
<p>The table lists the annotation data from homozygous mutant embryos that is the basis of the study. For every annotation the gene symbol, MGI_ID, allele symbol, DMDD_ID, MP term, ID and name is listed. In some cases the same MP term is listed more than once for a specific embryo (DMDD_ID), indicating the phenotypic abnormality was observed more than once in that embryo.</p>
Disrupted development of sensory systems and the cerebellum in a zebrafish ebf3a mutant
<p>Behavior and imaging data for the ebf3a mutant zebrafish line. Also, Supplementary Data S1, which contains additional RNA-seq analyses and code.</p>
Data from: The effect of operational sex ratio and density on the strength of sexual selection against mutant males in Drosophila melanogaster
<p>Higher male:female operational sex ratio (OSR) is often assumed to lead to stronger sexual selection on males. Yet, this premise has been directly tested by very few studies, with mixed outcomes. We investigated how OSR affects the strength of sexual selection against two deleterious alleles, a natural <em>ebony</em> mutant and a transgenic <em>GFP</em> insertion, in <em>Drosophila melanogaster. </em>To this end, we estimated the relative paternity share of homozygous mutant males competing against wildtype males under different OSRs (1:2, 1:1, 2:1). We also manipulated the mating pool density (18, 36 or 54 individuals), and assessed paternity over three consecutive days, during which the nature of sexual interaction changed. The strength of sexual selection against the <em>ebony</em> mutant increased with OSR, became weaker after the first day and was little affected by density. In contrast, sexual selection against the <em>GFP</em> transgene was markedly affected by density: at the highest density it increased with OSR, but at lower densities it was strongest at 1:1 OSR, remaining strong throughout the experiment. Thus, while OSR can strongly affect the strength of sexual selection against "bad genes", it does not necessarily increase monotonically with male:female OSR. Furthermore, the pattern of relationship between OSR and the strength of sexual selection can be locus-specific, likely reflecting the specific phenotypic effects of the mutation.</p>
Impaired intracellular Ca2+ signaling contributes to age-related cerebral small vessel disease in Col4a1 mutant mice
<p>Humans and mice with mutations in <em>COL4A1</em> and <em>COL4A2</em> manifest hallmarks of cerebral small vessel disease (cSVD). Mice with a missense mutation in <em>Col4a1</em> at amino acid 1344 (<em>Col4a1<sup>+/G1344D</sup></em>) exhibit age-dependent intracerebral hemorrhage (ICH) and brain lesions. Here we report that this pathology was associated with the loss of myogenic vasoconstriction, an intrinsic vascular response essential for the autoregulation of cerebral blood flow. Electrophysiological analyses showed that the loss of myogenic constriction resulted from blunted pressure-induced smooth muscle cell (SMC) membrane depolarization. Further, we found that dysregulation of membrane potential was associated with impaired Ca<sup>2+</sup>-dependent activation of large-conductance Ca<sup>2+</sup>-activated K<sup>+</sup> (BK) and transient receptor potential melastatin 4 (TRPM4) cation channels linked to disruptions in sarcoplasmic reticulum (SR) Ca<sup>2+</sup> signaling. Treating <em>Col4a1<sup>+/G1344D</sup></em> mice with 4-phenylbutyrate, a compound that promotes the trafficking of misfolded proteins and alleviates SR stress, restored SR Ca<sup>2+</sup> signaling and BK and TRPM4 channel activity, prevented loss of myogenic tone, and reduced ICH. We conclude that alterations in SR Ca<sup>2+</sup> handling that impair membrane potential regulating ion channel activity result in dysregulation of SMC membrane potential and loss of myogenic tone contributing to age-related cSVD in <em>Col4a1<sup>+/G1344D</sup></em> mice.</p>
Engineering DszC Mutants from Transition State Macrodipole Considerations and Evolutionary Sequence Analysis
<p>Gaussian input and output files required to reproduce the results and analyses in the work.</p> <p>Code required to conduct analysis and representation.</p>
Data required for "Low mutation rate of spontaneous mutants enables detection of causative genes by comparing whole genome sequences"
<p>In the early 1900s,mutation breeding to select varieties with desirable traits using spontaneous mutation was actively conducted around the world, including Japan. In rice, the number of fixed mutations per generation was estimated to be 1.38-2.25. Although this low mutation rate was a major problem for breeding in those days, in the modern era with the development of NGS technology, it was conversely considered to be an advantage for efficient gene identification. In this paper, we proposed an in silico approach using next-generation sequencing (NGS) to compare the whole genome sequence of a spontaneous mutant with that of a closely related strain with a nearly identical genome, to find polymorphisms that differ between them, and to identify the causal gene by predicting the functional variation of the gene caused by the polymorphism. Using this approach, we found four causal genes for the dwarf mutation, the round shape grain mutation and the awnless mutation. Three of these genes were the same as those previously reported, but one was a novel gene involved in awn formation. The novel gene was isolated from Bozu-Aikoku, a mutant of Aikoku with the awnless trait, in which nine polymorphisms were predicted to alter gene function by their whole-genome comparison. Based on the information on gene function and tissue-specific expression patterns of these candidate genes, Os03g0115700/LOC_Os03g02460, annotated as a shortchain dehydrogenase/reductase SDR family protein, is most likely to be involved in the awnless mutation. Indeed, complementation tests by transformation showed that it is involved in awn formation. Thus, this method is an effective way to accelerate genome breeding of various crop species by enabling the identification of useful genes that can be used for crop breeding with minimal effort for NGS analysis.</p>
Mass spectrometry of axonemes from Tetrahymena thermophila CU428 and acetylation mutants
<p>Acetylation of α-tubulin at the lysine 40 residue (αK40) by the ATAT1/MEC-17 acetyltransferase influences the properties of microtubules and is a widespread phenomenon in eukaryotic cells. Previous research indicates that microtubules that undergo acetylation at αK40 are more stable and resilient to damage. Notably, αK40 acetylation represents the sole identified post-translational modification site within the microtubule lumen, suggesting its role in regulating the lateral interactions among protofilaments within the microtubule structure. This investigation focuses on evaluating the impact of tubulin acetylation on doublet microtubules present in the cilia of <em>Tetrahymena thermophila</em>, employing mass spectrometry analysis. Cilia samples derived from <em>Tetrahymena</em> wild type, acetylation mutants (K40R and MEC17-Knockout), and non-acetylation mutants (RIB72B-Knockout and RIB72AB-Knockout) underwent comparative mass spectrometry analysis. The results from mass spectrometry revealed a correlation between αK40 acetylation and phosphorylation within the ciliary structures.</p>
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.