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The combined use of site‐specific recombination and gene targeting or trapping in embryonic stem cells (ESCs) has resulted in the emergence of technologies that enable the induction of mouse mutations in a prespecified temporal and spatially restricted manner.
In the ob/ob mouse, mutations in the leptin gene resulted in the obese phenotype opening the possibility of leptin therapy for human obesity.
In the mouse, mutations in the α subunit genes cause no overt neurological phenotype, but loss of Pafah1b2 disrupts spermatogenesis [16], [17].
We have generated mouse mutations in Lrsam1 to create an animal model of this form of CMT (CMT2P).
Mouse mutations in Lrsam1 were created for a form of CMT (CMT2P) which had only a very mild neuropathy phenotype with age but was more sensitive to the neurotoxin acrylamide, causing axon degeneration.
However, cellular iron uptake may not be the major function of TfR2, because both human and mouse mutations in TfR2 as well as the mouse knockout lead to increased rather than decreased levels of liver iron deposition.
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Here, we report the identification and characterization of a mouse mutation in striatin-interacting protein 1 (Sthat1) that disrupts migration of the mesoderm after the gastrulation epithelial-to-mesenchymal transition (EMT).
Poltorak, A. et al. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene.
In mice, mutations in Pten do not usually lead to mammary carcinoma.
In mice, mutations in the KCNMA1 gene cause cerebellar dysfunction, abnormal locomotion, and deficient motor coordination [ 53].
In mice, mutations in COL11A1 result in chondrodysplasia, which is characterized by various skeletal defects [ 42- 44], including a rotated distal portion of the hind limbs [ 42].
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