Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  16
• Reference
  J:77271 Bu L, et al., The gammaS-Crystallin Gene Is Mutated in Autosomal Recessive Cataract in Mouse. Genomics. 2002 Jul;80(1):38-44
• ID
  MGI:3056099

Genes

Gene
Crygs
D16Mit9
D16Mit59

Notes

• Experiment
  A spontaneous mutation called rncat (recessive nuclear cataracts) arose on the outbred Kunming strain. Linkage analysis was used to map this mutation using 191 animals from a (Kunming x C57BL/10Sn)F1 x Kunming backcross. Initial genotyping with 20 polymorphic markers mapped the mutation to mouse Chromosome 16. Additional mapping localized the rncat mutation to an interval between D16Mit9 (4 cM) and D16Mit59 (27.8 cM). A positional candidate gene, Crygs at 16.1 cM, gave strong linkage with LOD=57.5. Sequence analysis of Crygs revealed a G to A nonsense mutation at position 489 in exon 3 which results in conversion of Trp163 to a stop codon and a truncated protein product. This mutation was present in all homozygous and heterozygous mutant mice. Three otherintronic mutations were found but do not appear to segregate with the phenotype or affect splicing of the Crygs mRNA.