Archer J R, Archer V A, Festing M F, Ghiraldini M A
Bone, Tooth and Biomaterials Group, London Hospital Medical College.
Genet Res. 1991 Feb;57(1):29-35. doi: 10.1017/s0016672300029001.
A spontaneous mutation 'tich' (gene symbol tch) appeared as a recessive mutation in inbred mice of strain A. TL. Homozygotes are rather dumpy mice of approximately normal weight but with short limbs and tail. Skeletal measurements on backcross siblings show that the mandible bones are almost normal but long bones and some parts of the pelvic and pectoral girdles are short. Although tich resembles brachypodism phenotypically it is not linked to agouti, and does not match the description of any other skeletal mutation. There was some evidence for weak linkage with albinism on chromosome 7. The mutation has reappeared amongst the A. TL mice of a UK commercial breeder and may have been accepted as the norm for A. TL amongst some European users of this mouse.
一种自发突变“tich”(基因符号tch)在近交系A.TL小鼠中作为隐性突变出现。纯合子是相当矮胖的小鼠,体重接近正常,但四肢和尾巴短小。对回交后代同胞的骨骼测量表明,下颌骨几乎正常,但长骨以及骨盆带和胸带的某些部分较短。尽管tich在表型上类似于短肢畸形,但它与刺鼠基因不连锁,也不符合任何其他骨骼突变的描述。有证据表明它与7号染色体上的白化病存在弱连锁。这种突变在英国一家商业育种商的A.TL小鼠中再次出现,并且在一些欧洲使用这种小鼠的用户中,可能已被视为A.TL的正常特征。