An inherited kidney disease of mice resembling human nephronophthisis.

Abstract

This paper describes an inherited kidney disease which arose spontaneously in an inbred strain of mice, and appears to be due to a single autosomal recessive gene which has been given the name and symbol kidney disease, kd. Several types of heredi- tary kidney diseases are known in man, but the number of such diseases available for study in laboratory animals is still few, and it is possible that investigation of the disease described here may help to elucidate human inherited renal diseases. In particular, it resembles nephronophthisis, a geneti- cally controlled disease in man characterized clinically by polyuria, polydipsia, and loss of renal concentrating ability, and pathologically by both tubular atrophy and dilatation. We have not under- taken electron microscopy, microdissection or chemical investigations, other than the simplest tests, and would be glad to provide animals from the stock to those interested in investigating the con- dition further.