Friedman L S, Thistlethwaite F C, Patel K J, Yu V P, Lee H, Venkitaraman A R, Abel K J, Carlton M B, Hunter S M, Colledge W H, Evans M J, Ponder B A
Cancer Research Campaign, Human Cancer Genetics Research Group, Cambridge University, Addenbrooke's Hospital, United Kingdom.
Cancer Res. 1998 Apr 1;58(7):1338-43.
Inherited mutations in the BRCA2 gene predispose women to breast and ovarian cancer. We created a mutation in the mouse Brca2 gene that terminates translation in exon 11 at 45% of the normal transcript length. Ninety % of Brca2(tm1Cam) homozygous mutant mice die prenatally or perinatally. The location of the Brca2(tm1Cam) mutation differs from those reported previously, and this phenotype suggests a correlation with genotype analogous to that previously reported in humans. Although heterozygote mice have remained free of tumors for 10 months, Brca2(tm1Cam) homozygous mutants that survived to adulthood died with thymic lymphomas between 12 and 14 weeks of age.
BRCA2基因的遗传性突变使女性易患乳腺癌和卵巢癌。我们在小鼠Brca2基因中制造了一个突变，该突变在外显子11处终止翻译，导致转录本长度仅为正常长度的45%。90%的Brca2(tm1Cam)纯合突变小鼠在产前或围产期死亡。Brca2(tm1Cam)突变的位置与先前报道的不同，这种表型表明其与基因型之间存在类似于先前在人类中报道的相关性。尽管杂合子小鼠在10个月内未发生肿瘤，但存活至成年的Brca2(tm1Cam)纯合突变体在12至14周龄时死于胸腺淋巴瘤。
