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The analysis of mouse knockout phenotypes was performed by downloading phenotypic information from [ 36] as of 31 January 2013.
Based on the mouse knockout phenotypes, mutations involving the NOBOX, DMRT4, NR5A1 or StAR genes could be associated with cyst formation, however we did not detect mutations in the coding sequences of these genes in any of the cases described here.
The enrichments of GWAS genes, cancer genes, mouse knockout phenotypes, therapeutic targets, and biomarkers was also controlled for connectivity biases.
MO-injected fish showed normal thrombus initiation but severely impaired thrombus growth, consistent with the mouse knockout phenotypes, and concomitant knockdown of both resulted in spontaneous bleeding.
Information on mouse knockout phenotypes were gained from the Mouse Genome Informatics site (http://www.informatics.jax.org, accessed on 1/12/2010) [ 27].
Differential expression experiments reported here and known mouse knockout phenotypes suggest Rab22a and Gnas as candidate genes for the Fatq2b QTL, though, additional experiments are required to confirm any gene as the causal gene for Fatq2b.
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The Cox-2 mouse knockout phenotype had striking similarities with the morphological features of the disease in dogs [25].
The effect of loss of Ring1b on other PRC1 core members may explain the severity of the Ring1b mouse knockout phenotype compared to knockout models of other PRC1 members [14] [18].
Z. Su et al. performed an extensive analysis of the mouse knockout phenotype data and corroborated a strong effect of duplicate genes on mouse genetics robustness.
Most attention thus far has focused on GSK3β, the ubiquitous isoform with the more severe mouse knockout phenotype, but two other isoenzymes also exist, both of which have been implicated in neuronal outgrowth.
Although the complete mouse knockout phenotype has not been yet reported, a recent report indicate that mice lacking GPHR in keratinocytes exhibited hypo-pigmented skin, hair loss and scaliness, indicating that mammal GPHR is essential for epidermis homeostasis (Tarutani et al., 2012).
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