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Surfactant proteins are important collectin immune molecules with a wide distribution throughout the body, including the ocular system. Mice with gene deletions for the surfactant protein genes  Sftpa1  and  Sftpd  were observed to have visual impairment and thinning of the outer nuclear layers of the retina. We hypothesized that gene deletion of  Sftpa1  and  Sftpd  ( Sftpa1  tm1Kor/J  and  Sftpd  -/- ) results in early retinal degeneration in these mice.  Sftpa1  tm1Kor/J  and  Sftpd  -/-  retinas were evaluated by histopathology and optical coherence tomography (OCT). Retinas from  Sftpa1  tm1Kor/J  and  Sftpd   -/-  mice showed early retinal degeneration with loss of the outer nuclear layer. After screening of mice for known retinal degeneration mutations, the mice were found to carry a previously unrecognized Pde6b rd1  genotype which resulted from earlier breeding of the strain with Black Swiss mice during their generation. The mutation was outbred and the genotype of  Sftpa1  tm1Kor/J  and  Sftpd  -/-  was confirmed. Outbreeding of the Pde6b rd1  mutation resulted in restoration of normal retinal architecture confirmed by  in vivo  and  in vitro  examination. We can therefore conclude that loss of Sftpa1 and Sftpd do not result in retinal degeneration. We have now generated retinal  Sftpa1  and  Sftpd  targeted mice that exhibit normal retinal histology.

Retinal degeneration mutation in Sftpa1tm1Kor/J and Sftpd -/- targeted mice