Journal d'ophtalmologie clinique et expérimentale
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Genomic Analysis of Cryaa-R49C and Cryab-R120G Knockin Mutant Mice: 10-Year Follow-Up

Fred Kolling IV, Carol Ringelberg, Mia Wallace,Usha P Andley

Objective: Two experimental samples from a mouse line containing Cryaa or Cryab modifications on a predominantly C57Bl/6 background using 129Sv mouse strain embryonic stem cells were investigated. The objective was to reexamine the precise genetic background of the mice 10 years after they were converted to the C57Bl/6 background.

Results: The genetic backgrounds of the mice were assessed at the DartMouse™ Speed Congenic Core Facility at the Geisel School of Medicine at Dartmouth. DartMouse used the Illumina, Inc. Infinium Genotyping Assay to interrogate a custom panel of 5307 SNPs that were spread throughout the genome. The raw SNP data were analyzed using the DartMouse SNaPMap ™ and Map-Synth™ software, which allowed for genetic background identification at each SNP location for every mouse. As part of the analysis, 323 SNPs were eliminated from the data prior to generating chromosome maps due to internal quality control protocols. Of the remaining 4984 SNPs, 44.56% were uninformative (not polymorphic between the two relevant genetic backgrounds) and approximately 0.91% gave uninterpretable data. The remaining 54.53% of the returned SNPs were well distributed throughout the genome. The genetic backgrounds were determined to be 98-99% C57Bl/6J, which was the desired background.