Now showing items 1-7 of 7
Kidney and Retinal Defects (Krd), a Transgene-Induced Mutation with a Deletion of Mouse Chromosome 19 That Includes the Pax2 Locus
(Elsevier, 1994-09-15)
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 ...
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4
(Springer-Verlag, 2005-12)
A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early ...
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy
(Springer-Verlag, 2000-07)
Blue cone monochromacy (BCM) is an X-linked ocular disease characterized by poor visual acuity, nystagmus, and photodysphoria in males with severely reduced color discrimination. Deletions, rearrangements and point mutations ...
Increased recombination adjacent to the Huntington disease-linked D4S10 marker
(Elsevier, 1991-01)
Huntington disease (HD) is caused by a genetic defect distal to the anonymous DNA marker D4S10 in the terminal cytogenetic subband of the short arm of chromosome 4 (4p16.3). The effort to identify new markers linked to HD ...
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs
(Springer-Verlag; Springer-Verlag Berlin Heidelberg, 1998-11)
The murine situs inversus viscerum (iv) gene responsible for visceral asymmetry is linked tightly to the Igh-C cluster on chromosome 12
(Elsevier, 1990-07)
The iv gene controls left-right determination during murine organogenesis. To map this gene, we analyzed backcross progeny produced by mating (C57BL/6J x MEV/Ty)F1-iv/+ heterozygotes to C57BL/6J-iv homozygotes. Hybridization ...
Dendritic growth of dapi-accumulating amacrine cells in the retina of the goldfish
(Elsevier, 1989-11-01)
The dendritic growth of amacrine cells was studied in the retina of the goldfish. Those cells that accumulated the intraocularly injected fluorescent dye 4,6-diamidino-2-phenylindole (DAPI) were compared in retinal wholemounts ...