A NEW ANIMAL MODEL OF SCID FOR BIOMEDICAL RESEARCH

描述（由申请人提供）：调查人员最近描述了杰克罗素梗的SCID发病率。这些动物的分子缺陷是错误的可变多样性和连接重组，这是由于编码DNA依赖性蛋白激酶（DNA- pkcs）催化亚基的基因发生点突变，产生过早的停止密码子。因此，这些狗的SCID类似于先前描述的C.B-17小鼠和阿拉伯马驹的常染色体隐性SCID。本资源相关项目拨款（RRPG）的目的是确保资金，以便开发出具有潜在价值的SCID动物模型，供科学界使用。为此，将通过骨髓移植建立纯合子SCID杰克罗素梗的繁殖群体。

DESCRIPTION (provided by applicant): The investigators recently described the incidence of a SCID in Jack Russell terriers. The molecular defect in these animals is faulty variable diversity and joining recombination, which results from a point mutation within the gene encoding the catalytic subunit of the DNA dependent protein kinase (DNA-PKcs) generating a premature stop codon. Thus, SCID in these dogs is analogous to previously described autosomal recessive forms of SCID in C.B-17 mice and in Arabian foals. The purpose of this Resource Related Project Grant (RRPG) is to secure funding so that this potentially valuable animal model of SCID can be developed for use by the scientific community. To that end, a breeding colony of homozygous SCID Jack Russell terriers will be established via bone marrow engraftment. Though many potential uses for these animals can be envisioned, several are obvious and will be delineated as justification for developing this new animal model of SCID. The Specific Aims of this application are as follows: 1) SCID dogs as a tool to develop more efficient bone marrow transplantation techniques in children afflicted with combined immunodeficiency; 2) SCID dogs as a model of defective non-homologous DNA end joining; and 3) SCID dogs as an alternative/addition to use of SCID mice.