Figure 4.
Rab38 mutation causes the cht mouse phenotype. (a) Comparison of Rab38 sequence between wild-type C57BL/6J+/+ and C57BL/6J Rab38cht/+ DNA identified a G146T nucleotide change (arrow) for the cht allele. This nucleotide change was never seen in eight additional inbred strains analyzed (data not shown). (b) The G146T mutation creates a SexA1 restriction enzyme site in C57BL/6J Rab38cht/Rab38cht DNA and ablates a BsaJI restriction site present in wild-type Rab38 sequence. A 216-bp region surrounding the G146T nucleotide mutation was amplified from both C57BL/6J+/+ and C57BL/6J Rab38cht/Rab38cht DNA. SexA1 digests the PCR fragment of C57BL/6J Rab38cht/Rab38cht but not C57BL/6J+/+ (Left); BsaJ1 digests the PCR fragment of C57BL/6J+/+ but not C57BL/6J Rab38cht/Rab38cht (Right).