The endogenous gene has been mutated by homologous recombination to contain two point mutations in exon 11, A1073T and A1139C (per NCBI Entrez mRNA NM_007753), and thus to encode a protein harboring the amino-acid substitutions Tyr356Leu and Glu378Ala, respectively. A single loxP site remains in intron 10. Although western blot analysis of lysates of peritoneal mast cells demonstrates that mast cells from homozygous mutant mice express ~80% as much protein as those from normal mice, the lysates contain no detectable carboxypeptidase activity against the test substrate N-[4-methoxyphenylazoformyl]-Phe-OH. (J:125964)
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
Recessive
1
--
4

表型特征

标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
观察到的表型
N: 正常表型
(#): 上标括号内为相关疾病数量
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