From: Three Novel Pax6 Alleles in the Mouse Leading to the Same Small-Eye Phenotype Caused by Different Consequences at Target Promoters Invest. Ophthalmol.

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From: Three Novel Pax6 Alleles in the Mouse Leading to the Same Small-Eye Phenotype Caused by Different Consequences at Target Promoters Invest. Ophthalmol. Vis. Sci.. 2005;46(12):4671-4683. doi:10.1167/iovs.04-1407 Figure Legend: Molecular analysis of ADD4802. Pax6 was tested as candidate gene. The structure of its transcript and the exons, nucleotides, and amino acids are designated according to Hanson. 35 Numbering of the mRNA starts at the initial ATG, as indicated by the reference sequence NM_013627. Counting of the amino acids corresponds to the protein sequence NP_038655. PB, paired box; LNK, linker region; HB, homeobox; PST, PST-domain; CT, C-terminal peptide. (a) Sequence analysis. The mutation site is indicated in bold; sequence analysis indicates a G→A substitution in the first base of intron 8 (intronic sequence is underlined). The Tsp45I site present only in the wild types is boxed. The deduced protein sequence in the mutant is given in bold above the corresponding cDNA; the premature stop codon is double underlined. (b) Restriction analysis. A 259-bp fragment, including parts of exon 8 and intron 8, was amplified from genomic DNA of different wild-type and ADD4802 mutant mice. The PCR fragment was analyzed by polyacrylamide gel electrophoresis with (+) or without (−) digest by Tsp45I. The fragment from the wild-type mice could be digested, whereas the fragment from the 5 homozygous ADD4802 mutants remained undigested. BALB, BALB/c; C57, C57BL/6J; JF-1, Japanese fancy mouse; T, test stock; C3H, C3HeB/FeJ; M, marker. Date of download: 11/8/2017 The Association for Research in Vision and Ophthalmology Copyright © 2017. All rights reserved.