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Thy1-haSN(A53T) mice display severe motor coordination deficits and develop subsequently neuropathology in several brain areas and degeneration of the neuromuscular junctions.
Indeed, ClC-7 knockout mice display severe lysosomal storage disease and an impaired bone resorption phenotype [8], [12].
Uko/mdx mice display severe clinical symptoms and die prematurely as in Duchenne muscular dystrophy (DMD) patients.
Constitutively L1-deficient mice display severe brain malformations, in particular hydrocephalus and agenesis of the corpus callosum [1], [2].
Nevertheless, most of dy3K/δE3 mice display severe peripheral nerve abnormalities, as demonstrated by temporary hindleg paralysis (either one or occasionally two limbs) (Fig. 5A, arrow).
The effects of complete PERK inhibition in normal mammary gland development are not known, since PERK knockout mice display severe neonatal diabetes and die shortly after birth [64].
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More specifically, Col10a1-deficient Hyp mice displayed severe disturbances of skeletal growth, bone mass acquisition and bone matrix mineralization, and they were essentially indistinguishable from Hyp littermates.
Moreover, Gli3Xt/+; Alx4Lst/+ mice displayed severe polydactyly (two extra digits) (Fig. 2F).
Lmna-/ mice displayed severe age-dependent defects in T and B cell development which coincided with runting.
Moreover, mammalian SIRT1 knockout is typically embryonic lethal, with surviving mice displaying severe developmental abnormalities including exencephaly, sterility and heart/retinal defects [5], [6], [8].
Interestingly, NOD1 KO mice displayed severe swelling, similar to that seen in WT mice.
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