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The Apert syndrome Fgfr2+/S252W mouse model exhibits perinatal lethality.
Dysfunction of MEF2C leads to embryo hypoplasia, disorganized myofibers and perinatal lethality.
MST1/2 are activated during keratinocyte differentiation, deletion of their scaffold protein encoded by Sav1 also causes perinatal lethality and the embryonic epidermal hyperplasia (Lee et al., 2008).
Liver-specific Bap1 null mice present with fully penetrant perinatal lethality, severe hypoglycemia, and hepatic lipid deficiency.
Cholesterol synthesis ablation in neuronal precursor cell during embryonic development leads reduced brain size and perinatal lethality and newly generated neurons (Saito et al., 2009).
It was reported that individuals harboring 10%30%% m.3243A>G mutation manifest diabetes and occasionally autism, individuals with 50%90%% mutant mtDNAs manifest encephalomyopathies, and these cases with 90%100%% mutant mtDNAs face perinatal lethality (Picard et al., 2014).
The perinatal lethality precludes studies of the role of Wnt4 in the skeleton after birth.
The perinatal lethality of CK1δ deficiency precludes assessment of locomotor activity rhythms in this genotype.
SALL3 null mice exhibit plate deficiency, abnormalities in cranial nerves, and perinatal lethality [5].
Our results argue that complete biallelic enhancer blocking at the H19/Igf2 ICR position results in perinatal lethality.
Heterozygote Va mice have pigmentation defects, hearing loss, and circling behavior, whereas homozygotes display perinatal lethality [4] [6].
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