| First Author | Chang Bo | Year | 2019 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:277888 |
| Mgi Id | MGI:6355959 | Citation | Chang Bo (2019) The lens opacity 20 spontaneous mutation in Crygc. MGI Direct Data Submission |
| abstractText | Lens opacity was discovered in the eyes of an F1 hybrid mouse from a cross of BALB/cJ x A/J. This mutation was found to be semidominant with homozygotes having a small eyes (=30-50% of normal size), heterozygotes also having eyes slightly smaller than normal (about 75% of normal size), while the cataracts are similar in homozygotes and heterozygotes and display the same clinical phenotypes as those caused by the Crygd<sup>Lop12</sup> mutation. Specifically, the cataracts are visible by 1 month of age when they have dense nuclear opacification with irregular edges at the junction between the nucleus and cortex, the cortex subsequently becomes cloudy (Fig. 1). This mutation was named lens opacity 20 (Lop20) and mapped through a cross/backcross to CAST/EiJ (Fig. 2) and a 2 base pair (GC) insertion was identified in exon 3 that causes a frameshift after codon 124 and premature stop at codon 147 (Fig. 3). The Crygc<sup>Lop20</sup> mutation was backcrossed at least once to BALB/cJ prior to sibling intercrossing to homozygosity. |
