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It has been reported that Bid, Bim and Puma triple-knockout mice present developmental defects associated with deficiency of Bax.
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While, cells isolated from these mice are ICL-sensitive, most mice do not present developmental defects, anemia and cancer predisposition that are commonly described in FANC patients [19].
Of note, AK1 knockout mice present no apparent developmental cardiac defects which could be related to overlapping function and compensation provided by complementary adenylate kinase isoforms of which eight are currently known [7], [64].
However, as the Esrp deficient mice present with a myriad of developmental defects we wanted to highlight several of these key observations in this first publication.
At the end of gastrulation, the Dlg3 mutant mouse embryos present with several developmental defects of variable severity, such as an absence of embryonic turning, posterior truncation and forebrain deletion.
Human PM21 individuals present postnatal growth retardation, short stature, craniofacial malformations, psychomotor retardation and intellectual disability, and Ms5Yah mice show developmental delay, reduction of size and weight, thrombocytopenia, motor coordination deficits, and spatial learning and memory impairments.
Consistent with this, Sirt1 knockout mice show developmental defects.
To provide a framework for the generation and analysis of such PR72/B" knockout mice, we present a comprehensive overview of the murine PR72/B -encoding genes, their exon/intron organisation, their (alternative) transcriPR72/B -encodingvelopmental and tissue-specific expression.
Next, we present our developmental approach.
By contrast, Fgfr3-null mice showed no developmental deficiencies in GnRH neurons (13).
Importantly, the most striking phenotype in female Rpn13−/− mice was a developmental defect in the ovaries.
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