Kidney and Retinal Defects (Krd), a Transgene-Induced Mutation with a Deletion of Mouse Chromosome 19 That Includes the Pax2 Locus
dc.contributor.author | Keller, Scot A. | en_US |
dc.contributor.author | Jones, Julie M. | en_US |
dc.contributor.author | Boyle, Ann | en_US |
dc.contributor.author | Barrow, Lon L. | en_US |
dc.contributor.author | Killen, Paul D. | en_US |
dc.contributor.author | Green, Daniel G. | en_US |
dc.contributor.author | Kapousta, Natalia V. | en_US |
dc.contributor.author | Hitchcock, Peter F. | en_US |
dc.contributor.author | Swank, Richard T. | en_US |
dc.contributor.author | Meisler, Miriam H. | en_US |
dc.date.accessioned | 2006-04-10T17:53:59Z | |
dc.date.available | 2006-04-10T17:53:59Z | |
dc.date.issued | 1994-09-15 | en_US |
dc.identifier.citation | Keller, Scot A., Jones, Julie M., Boyle, Ann, Barrow, Lon L., Killen, Paul D., Green, Daniel G., Kapousta, Natalia V., Hitchcock, Peter F., Swank, Richard T., Meisler, Miriam H. (1994/09/15)."Kidney and Retinal Defects (Krd), a Transgene-Induced Mutation with a Deletion of Mouse Chromosome 19 That Includes the Pax2 Locus." Genomics 23(2): 309-320. <http://hdl.handle.net/2027.42/31327> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WG1-45NJWMC-1F/2/cbaf7f21f5cbf61a8e952d70997df765 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/31327 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7835879&dopt=citation | en_US |
dc.description.abstract | The semidominant mutation Krd (kidney and retinal defects) was identified in transgenic line Tg8052. Krd/+ mice have a high incidence of kidney defects including aplastic, hypoplastic, and cystic kidneys. Retinal defects in Krd/+ mice include abnormal electroretinograms and a reduction of cell numbers that is most extreme in the inner cell and ganglion layers. Viability of Krd/+ mice is strongly influenced by genetic background, and growth retardation is observed in young amimals. Homozygosity results in early embryonic lethality. Fluorescence in situ hybridization of a transgene-specific probe localized the insertion site to the distal region of mouse Chromosome 19. The sequence of the insertion site revealed transgene insertion into a LINE element with deletion of a single nucleotide firom the 3' terminus of the transgene. A polymorphic microsatelllte, D19Umi1 , was identified in a junction clone and mapped in several large crosses. D19Umi1 is located 1.7 +/- 1.0 cM distal to Pax2, which encodes a paired type transcription factor expressed in embryonic kidney and eye. Deletion of Pax2 from the transgenic chromosome was demonstrated by Southern analysis of genomic DNA from (Krd/+ x SPRET/Ei)F1 mice. Additional genetic and molecular data are consistent with an approximately 7-cM deletion that includes the loci stearoyl CoA desaturase (Scd1), pale ear (ep), D19Mit17, D19Mit24, D19Mit27, D19Mit11, and Pax2. This deletion, Del(19)TgN8052Mm, will be useful for genetic and functional studies of this region of mouse Chromosome 19. | en_US |
dc.format.extent | 1318048 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Elsevier | en_US |
dc.title | Kidney and Retinal Defects (Krd), a Transgene-Induced Mutation with a Deletion of Mouse Chromosome 19 That Includes the Pax2 Locus | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. | en_US |
dc.contributor.affiliationum | Department of Pathology, University of Michigan, Ann Arbor, Michigan, USA. | en_US |
dc.contributor.affiliationum | Department of Opthalmology, University of Michigan, Ann Arbor, Michigan, USA. | en_US |
dc.contributor.affiliationum | Department of Opthalmology, University of Michigan, Ann Arbor, Michigan, USA. | en_US |
dc.contributor.affiliationum | Departments of Opthalmology and Anatomy and Cell Biology, University of Michigan, Ann Arbor, Michigan, USA. | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. | en_US |
dc.contributor.affiliationother | Department of Genetics, Yale University, New Haven, Connecticut, USA. | en_US |
dc.contributor.affiliationother | Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Buffalo, New York, USA. | en_US |
dc.identifier.pmid | 7835879 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/31327/1/0000236.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1006/geno.1994.1506 | en_US |
dc.identifier.source | Genomics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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