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To determine if mFasL also accelerates RGC degeneration in this spontaneous model of glaucoma, we backcrossed the ΔCS mutation onto the DBA/2J background.
To address this, we generated a caps trn double null mutation, capsDel1 trn28.4, by using P-element induced male recombination [21] to simultaneously delete caps and recombine the new mutation onto the existing trn28.4 null allele (see Figure 3B and Materials and Methods for details).
We mapped the nbs1-2 mutationtonthethe crystal structure of S. pombe.
Congenic Cftr MHH mice were generated by backcrossing the targeted mutation onto the B6 inbred background.
To obtain CIA-susceptible Fas mutant mice, we backcrossed the lpr mutation onto the susceptible DBA/1J background for at least six generations.
Modeling the mutation onto the Nbs1 crystal structure predicts that the bulky phenylalanine will occlude part of the phospho-threonine binding pocket and should alter Ctp1 Nbs1 interactions.
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Furthermore, in silico mutational analysis was initiated by mapping the deleterious mutations onto the available 3D structure with the help of Swiss-PdbViewer [ 33].
Mapping 120 MPS IV A missense mutations onto the structure reveals that a majority of mutations affect the hydrophobic core of the structure, indicating that most MPS IV A cases result from misfolding of GALNS.
Mapping the mutations onto the atomic structure of BbCRASP-1 reveals that, in contrast to earlier assumption, the C-terminal mutations act indirectly on FHL-1 and factor H binding, whilst the region 1 mutations map the site of direct complement regulator interaction.
Mapping of disease-related mutations onto the Nav1.7 structure model is highlighted by different colors.
Mapping of human mucolipidosis type IV mutations onto the structure of an mTRPML1 subunit.
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