International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


J Rohozinski
Baylor College of Medicine

1) Ty MT, 1) Martinez H, 1) Poirier C,  1,2) Bishop CE
1) Department of Obstetrics & Gynecology, 2)Department of Molecular and Human Genetics, Baylor College of Medicine

The recessive, non-pleiotropic mouse mutation, jsd (juvenile spermatogonial depletion)  is characterized by sterility in adult males. The testes of  young males homozygous for the mutation undergo a single wave of spermatogenesis after which type A spermatogonial stem cells fail to differentiate. Using stem cell transplantation, we have previously shown that the defect is cell autonomous, being restricted to the germ line rather than the supporting tissue. We have localized jsd to an interval of approximately 0.4cM at 49cM on chromosome 1, between markers D1Mit215 and 257SP6, a distance of approximately 1.5Mb. At least 8 known or novel genes have been identified in this interval. We have chosen one gene, termed Jr1, as a primary candidate for jsd based on a number of criteria, including its restricted spatio-temporal expression pattern in the male germ line, as revealed by in situ hybridization. The JR1 protein contains a single FYVE domain suggesting that it localizes to endosomes, and multiple WD40 domains putatively involved in protein-protein interactions. Jr1 is well conserved and its human homologue, FENS1, has recently been shown to interact specifically with the membrane phospholipid PtdIns3p found only in early endosomes. We have targeted this gene using a replacement vector containing an IRES LacZ reporter gene. Mice containing the targeted Jr1 gene have been identified and the phenotype of the compound heterozygotes Jr1+/-, jsd/+ and homozygous Jr1-/- mice will be presented. The presence of the Lac Z reporter gene will facilitate the study of Jr1 expression.

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