The International Mouse Phenotyping Consortium (IMPC) continues to expand the catalogue of mammalian gene function by conducting genome and phenome-wide phenotyping on knockout mouse lines. The extensive and standardized phenotype screens allow the identification of new potential models for human disease through cross-species comparison by computing the similarity between the phenotypes observed in the mutant mice and the human phenotypes associated to their orthologous loci in Mendelian disease. Here, we present an update on the novel disease models available from the most recent data release (DR10.0), with 5861 mouse genes fully or partially phenotyped and a total number of 69,982 phenotype calls reported. With approximately one-third of human Mendelian genes with orthologous null mouse phenotypes described, the range of available models relevant for human diseases keeps increasing. Among the breadth of new data, we identify previously uncharacterized disease genes in the mouse and additional phenotypes for genes with existing mutant lines mimicking the associated disorder. The automated and unbiased discovery of relevant models for all types of rare diseases implemented by the IMPC constitutes a powerful tool for human genetics and precision medicine.

中文翻译：

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国际小鼠表型研究协会的人类疾病新模型。

国际小鼠表型联合会（IMPC）通过在基因敲除小鼠品系上进行基因组和全表型表型化，继续扩大哺乳动物基因功能的目录。广泛而标准化的表型筛选可通过计算突变小鼠中观察到的表型与其与孟德尔疾病直系同源位点相关的人表型之间的相似性，通过跨物种比较来鉴定新的潜在人类疾病模型。在这里，我们介绍了可从最新数据发布（DR10.0）获得的新型疾病模型的更新，其中有5861个小鼠基因已完全或部分表型表达，报道的总数为69,982个表型调用。大约有三分之一的人类孟德尔基因具有直系同源的空小鼠表型，与人类疾病有关的可用模型的范围不断扩大。在众多新数据中，我们确定了小鼠中先前未表征的疾病基因，以及具有模拟相关疾病的现有突变株系的基因的其他表型。IMPC实施的所有类型的罕见病相关模型的自动，无偏见的发现，构成了人类遗传学和精密医学的强大工具。