Читать книгу Pathology of Genetically Engineered and Other Mutant Mice - Группа авторов - Страница 65

The system for naming chemically or radiation‐induced mutations is similar to that for spontaneous mutations, except that while many are initially assigned phenotypic names and corresponding symbols, some are instead assigned program accession numbers. One example of this is nmf12, which was the 12th characterized ENU induced mutation in the neuroscience mutagenesis facility (nmf) at The Jackson Laboratory. Once the underlying mutation was found to be a H716R point substitution in the gene MER proto‐oncogene tyrosine kinase, the symbol changed to Mertk^nmf12 [40].

Table 3.11 Evolution of the nomenclature for nude.

nu original mutation symbol D11Bhm185e, Hfh11, whn‐ early gene symbols Foxn1 (current gene symbol, forkhead box N1) Foxn1 nu current allele symbol for the nude allelic mutation

Table 3.12 Nomenclature for spontaneous mouse mutations.

C57BL/6J‐Lystbg‐J/J C57BL/6J‐Pax3Sp‐d/JC57BL/6J = Inbred strain carrying the mutationLyst = Lysosomal trafficking regulator (gene name, italics)bg‐J = Allele symbol for beige Jackson. Note the first letter in the allele (bg‐J) is lower case indicating it is recessive

C57BL/6J‐Pax3Sp‐d/JC57BL/6J = Inbred strain carrying the mutationPax3 = Paired box 3 (gene name, italics)Sp‐d = Allele symbol for delayed splotch. Note the first letter in the allele (Sp‐d) is upper case indicating dominant or semi‐dominant

Radiation‐induced mutations have also often been assigned phenotypic names, such as disproportionate micromelia (Col2a1^Dmm), but because radiation‐induced mutations often impact more than one gene, the mutation symbol is in those instances not superscripted to a single gene symbol. A.G. Searle reported several phenotypic mutants generated in neutron irradiation experiments, one of which caused severe ocular colobomas in heterozygotes and was therefore named coloboma, with the symbol Cm [41, 42]. When this mutation was determined to be a multigenic deletion encompassing 29 genes the symbol remained Cm but the name changed from coloboma to coloboma deletion region. The symbol and name could have been changed to follow chromosomal aberration nomenclature for deletions, but because of the long history of this mutation in the literature this was not done.