Primary Identifier | MGI:5469352 | Allele Type | Spontaneous |
Gene | Vps52 | Strain of Origin | wild-derived |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A 2 nucleotide insertion of GG is detected at the start of exon 2 in a stretch of consecutive G nucleotides (9 in the wild-type C57BL/6 sequence) resulting in a frameshift mutation that generates a premature termination codon. Western blot analysis with an antibody directed against amino acids 496-509 does not detect the protein band in homozygous embryonic stem cells. This mutation is found in the tw5 haplotype. |