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Neither mouse mutant shows an obvious phenotype under normal conditions but embryonic lethality ensues when pregnant mice are exposed to hypoxia.
Rather than merely demonstrating that a mouse mutant shows some patterns of behavior reminiscent of human symptomatology, it will be essential to analyze physiological measures of circuit dynamics that explain behavior on a moment-to-moment basis in the relevant social and cognitive context.
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Our analyses of the Sod1 D83G mouse mutant show that mutation in the endogenous mouse Sod1 gene models critical features of human ALS (U and LMN cell death), albeit with a different profile than found in mice expressing human mutant SOD1 transgene arrays.
More generally, mutations in nbs1 lead to spore viability defects in fungi (Semighini et al. 2003; Shima et al. 2005) and viable mouse mutants show mild chromosome synapsis defects (Cherry et al. 2007).
Hoxa1 mouse mutants show defects in neural tube closure (Lufkin et al., 1991); however, no effect of Hox gene abrogation on neural tube morphogenesis in zebrafish has been described.
The proteins include components of the MAPK, MTOR, and apoptosis signaling pathways, immediate early gene (IEG) proteins, subunits of ionotropic glutamate receptors, and additional proteins involved in synaptic plasticity and/or known to be mutated in subsets of patients with ID or in mouse mutants showing LM deficits or abnormal in patients with AD or mouse models of AD.
Wnt5a mouse mutants also show a delay in chondrocyte progression to hypertrophy, and as a consequence, limbs are shorter in Wnt5a−/− mutants [54].
The Scn8a gene is mutated in at least 11 mouse mutants, which show a range of motor dysfunction including paralysis, dystonia and tremor.
Similar to Cx43+/+ mice, mutant mice showed the presence of low levels of milk within the ducts of the thoracic mammary glands prior to the addition of oxytocin.
Mouse Zic2 mutants show an increased number of ENS neurons (Zhang & Niswander, 2013).
7) Are there mouse mutants that do show cerebellar deficits, but no signs of autism (as described above)?
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