Overall, these data suggest that mice carrying the G-CSFR mutation are defective in mobilizing and/or activating inflammatory neutrophils, which inhibits the production of autoAbs.
Consistent with a general role of TXDC-9 in microtubule dynamics, animals homozygous for the txdc-9 mutation were defective in movement, a phenotype also seen when microtubules are disrupted by benomyl and other microtubule drugs (Chalfie and Thomson 1982).
On the other hand, a chat-1 mutation that is defective in flippase activity rescues the axon regeneration defect of ced-7 mutants, which otherwise fail to respond to axonal injury due to a defect in cell surface PS exposure.
In collaboration with other experts in environmental health sciences, his group is also investigating whether a polymorphic form of the DNA repair protein XRCC1, shown to increase p53 mutation rates, is defective in its biochemical activity.
odr-3 is a nonsense mutation, which is defective in chemotaxis to all odorants sensed by the AWA or AWC neurons [27].
The primary phenotype associated with mutation of btl is defective tracheal development.
These repeating elements in genes can be prone to a high rate of mutation if there is defective mismatch repair.
In genetic analysis, production of SA can be reduced by the mutation sid2, which is defective in the main biosynthesis pathway (ISOCHORISMATE SYNTHASE1, ICS1), or by expression of a bacterial SA degrading enzyme NahG.
In contrast to the other HOTTIP binding mutations, WDR5 F266A is defective in lncRNA binding in vitro and in vivo, but without any defects in binding MLL complex subunits RbBP5 or MLL1 in immunoprecipitation experiments.
The tumor harboring p53 mutation is often defective in transcription activity [ 53]; mice expressing defective p53 transcription activity are predisposed to tumors [ 4].
