Green M C, Jahn C L
J Hered. 1977 May-Jun;68(3):150-6. doi: 10.1093/oxfordjournals.jhered.a108800.
A new recessive mutation, bradypneic (bd), causes variable weight retardation beginning as early as 3 to 5 days. Severely affected mice die within the first 2 weeks; less severely affected mice may survive to weaning or to adulthood and may be fertile. Bradypneic mice tested at 3 weeks or older breathed at half the normal rate, but breathing was deeper and O2 consumption per unit of body surface was normal. No obstruction was found in the nasal passages, pharynx, trachea, or bronchi. The lungs were somewhat emphysematous and, probably in consequence, the right atrium was enlarged. The only other pathological conditions found were dilation of some of the distal tubules of the kidney and large amounts of gas in the stomach and intestines. The investigation did not reveal the cause of the breathing defect, but it is possible that the breathing defect is responsible for the emphysema, intestinal gas, small size, and early death. Extensive linkage tests have not yet revealed the chromosomal location of bd.
一种新的隐性突变,呼吸缓慢(bd),最早在3至5日龄时就会导致体重增长迟缓。严重受影响的小鼠在出生后2周内死亡;受影响较轻的小鼠可能存活至断奶或成年,并且可能具有生育能力。3周龄及以上的呼吸缓慢小鼠呼吸频率仅为正常速率的一半,但呼吸更深,单位体表的氧气消耗量正常。在鼻腔、咽部、气管或支气管中未发现阻塞。肺部有一定程度的气肿,可能因此导致右心房增大。发现的其他病理状况仅有肾脏一些远端小管扩张以及胃和肠道中有大量气体。该研究未揭示呼吸缺陷的原因,但呼吸缺陷有可能是导致气肿、肠道气体、体型小和早期死亡的原因。广泛的连锁测试尚未揭示bd的染色体定位。