Several Nf1 conditional knockout mice have been generated including those with neuron-specific, astrocyte-specific, and Schwann cell-specific Nf1 inactivation. Ablation of Nf1 in neurons using the synapsin-I promoter results in viable, growth-retarded pups that exhibit massive brain astrogliosis and abnormalities in cortical development [86].

2002年1月1日 · Several Nf1 conditional knockout mice have been generated including those with neuron-specific, astrocyte-specific, and Schwann cell–specific Nf1 inactivation.

2024年5月30日 · We demonstrate that mice with global or OPC-specific Nf1 heterozygosity exhibit defects in activity-dependent oligodendrogenesis and harbor focal OPC hyperdensities with disrupted homeostatic...

2006年3月8日 · Application of new high-resolution genomic technologies to the Nf1 knock-out mouse model may provide new insight into the mechanisms behind the cognitive impairment in humans with Neurofibromatosis type 1.

2003年2月1日 · Schwann-cell-specific Nf1 knockout mice generated to express one mutant and one wild-type allele in all cells ( Nf1flox/mut; Krox20–Cre mice) develop plexiform neurofibroma-like tumors along peripheral nerves.

2024年6月20日 · In the past two decades, tissue-specific Nf1 knockout mouse models were developed using commercially available tissue-specific Cre recombinase and the Nf1 flox mice to mimic neurofibroma development. However, these models develop para-spinal neurofibroma, recapitulating a rare type of neurofibroma found in NF1 patients.

2016年7月1日 · We demonstrate that the human nonsense NF1 (Arg681*) and missense NF1 (Gly848Arg) mutations have different effects on neurofibromin expression in the mouse and each recapitulates unique aspects of the NF1 phenotype, depending upon the genetic context when assessed in the homozygous state or when paired with a conditional knockout allele.

The development of traditional homozygous knockout mice has provided insights into the roles of the NF1 and NF2 genes during development and in differentiation, but has been less instructive regarding the contribution of NF1 and NF2 dysfunction to the pathogenesis of specific benign and malignant tumors.

2006年3月8日 · It is proposed that the cognitive deficits in NF1 are the result of dysfunctional cellular trafficking and localization of molecules downstream of the primary gene defect.

2006年3月8日 · Application of new high-resolution genomic technologies to the Nf1 knock-out mouse model may provide new insight into the mechanisms behind the cognitive impairment in humans with Neurofibromatosis type 1.