Favor J, Grimes P, Neuhäuser-Klaus A, Pretsch W, Stambolian D
Institute of Mammalian Genetics, GSF-National Research Center for Environment and Health, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany.
Mamm Genome. 1997 Jun;8(6):403-6. doi: 10.1007/s003359900456.
Cat4 is the second largest allelism group in the collection of mouse dominant eye mutations recovered in Neuherberg and carriers express anterior polar cataract, central corneal opacity, and lens-corneal adhesions. We have mapped the Cat4 locus of the mouse to central Chromosome (Chr) 8 at position cM 31. Histological characterization of Cat4(a) heterozygotes and homozygotes indicates failure of separation of the lens vesicle from the surface ectoderm. Human anterior segment ocular dysgenesis (ASOD) is autosomal dominant, carriers express an eye phenotype similar to that of Cat4(a) carriers, and it has been mapped to a region of 4q homologous to mouse central Chr 8. Thus, on the basis of phenotype and map position, Cat4 may be a mouse model of human ASOD. The genes Junb, Jund1, Mel, and Zfp42 are discussed as possible candidates for Cat4.
Cat4是在新黑尔贝格收集的小鼠显性眼突变体中第二大等位基因群，其携带者表现出前极性白内障、中央角膜混浊和晶状体-角膜粘连。我们已将小鼠的Cat4基因座定位到8号中央染色体（Chr）上cM 31的位置。Cat4(a)杂合子和纯合子的组织学特征表明晶状体泡与表面外胚层未能分离。人类眼前节眼发育异常（ASOD）是常染色体显性遗传，携带者表现出与Cat4(a)携带者相似的眼表型，并且已定位到与小鼠中央Chr 8同源的4q区域。因此，基于表型和图谱位置，Cat4可能是人类ASOD的小鼠模型。讨论了Junb、Jund1、Mel和Zfp42基因作为Cat4的可能候选基因。
