Representative Germline CNVs in Mice Identified by High-Resolution aCGH

<div><p>The log₂ ratios of signal intensity for C57BL/6J (reference) versus 20 test strains are shown. Inset, an expanded view of the CNVs in NOD/LtJ and A/J from (A) and (B). Scale, 500 kb.</p><p>(A) A 135.6-kb segment of reduced copy number (mean log₂ = −1.02) on Chromosome 14 is present in most strains.</p><p>(B) A 61.7-kb amplified segment (mean log₂ = +1.01) on Chromosome 1 is present in most strains.</p></div

Validation of Copy Number Changes Identified by aCGH

<div><p>(A) Log₂ ratio plot demonstrates a 109.2-kb segment of copy number loss on Chromosome 6 in C57L/J, compared to C57BL/6J.</p><p>(B) qPCR using a primer/probe set in the altered region demonstrates normal copy number (normalized to a relative copy number of one in C57BL/6J) in unaffected strains and significantly reduced copy number in four affected strains (inset, zoom-in view of <i>y</i>-axis).</p><p>(C) qPCR fails to generate an amplicon of expected size in the altered region from affected strains. B6, C57BL/6J reference strain.</p><p>(D) Log₂ ratio plot demonstrates a 473.7-kb segment of copy number gain on Chromosome 17 in BALB/cByJ compared to C57BL/6J.</p><p>(E) qPCR demonstrates heterogeneity of copy number (normalized to a relative copy number of one in C57BL/6J) in this region among 20 strains.</p><p>(F) Copy number estimates from aCGH and qPCR are highly concordant (<i>p</i> < 0.0001).</p></div