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Chromosomal Aberration Nomenclature

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Mutations that include more than one gene or alter chromosomal organization are often, but not always, assigned symbols and names that indicate this. The symbol begins with an indicator of the nature of the mutation followed by details about the chromosomal location of the mutation in parentheses followed by a line number and lab code of the laboratory that identified it. The most common types of chromosomal aberrations are multigenic deletions, but we include here a short list of examples of a few other important types:

 Del(10)77H: Deletion in Chromosome 10 that was the 77th deletion identified at Harwell (http://www.informatics.jax.org/accession/MGI:5314347).

 Del(5Letm1‐Htt)1Jcs: Deletion in Chromosome 5 from the gene Letm1 to the gene Htt that was the first made by Dr. John Schimenti (http://www.informatics.jax.org/accession/MGI:3798057).

 Dp(7Sult1a1‐Spn)7Yah: Duplication in Chromosome 7 from the gene Sult1a1 to the gene Spn that was the seventh duplication made by Dr. Yann Herault (http://www.informatics.jax.org/accession/MGI:6342919).

 In(5)2Rk: Inversion in Chromosome 5 that was the 5th inversion generated by Dr. Thomas Roderick (http://www.informatics.jax.org/accession/MGI:3789592).

 Rb(11.16)2H: Robertsonian translocation between Chromosomes 11 and 16 that was the second Robertsonian translocation generated at Harwell (http://www.informatics.jax.org/accession/MGI:104106).

 T(12;16)1Cje: Reciprocal translocation between Chromosomes 12 and 16 that was the first reciprocal translocation generated by Dr. Charles Epstein (http://www.informatics.jax.org/accession/MGI:1860491).

While chromosomal aberrations were traditionally generated primarily through radiation experiments, modern genetic engineering techniques permit more engineered strategies [43]. Transgenic insertions are also a form of chromosomal aberration, and they are covered in the “Genetically Engineered Mice” section.

Pathology of Genetically Engineered and Other Mutant Mice

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