| First Author | Chang B | Year | 2024 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:350897 |
| Mgi Id | MGI:7664611 | Citation | Chang B (2024) The retinal cone dysfunction mutation. MGI Direct Data Submission |
| abstractText | In 2018 a retinal cone dysfunction was identified in a colony of Myo7a<tm1b(EUCOMM)Wtsi> (Myo7a KO) mice in the laboratory of Dr. Shannon E. Boye at The University of Florida. The Myo7a KO mice had exons 10-11 of Myo7a deleted via cre-lox recombination and were maintained on a predominantly C57BL/6J background. The cone dysfunction was identified during characterization of the Myo7a-/-, Myo7a+/-, and Myo7a+/+ littermates. It was found that some mice within the Myo7a KO colony did not have photopic electroretinogram (ERG) responses at any light intensities. The earliest time point tested was at 4 weeks of age. This phenotype did not segregate with the Myo7a allele. Mice with this mutant phenotype were mated with C57BL/6J and all F1 mice had normal retinas. The phenotype was recovered in the F2 generation showing a recessive inheritance. From this point, this cone dysfunction mutation was maintained by intercrossing affected siblings for over 5 generations at University of Florida (UF). Two mutant male mice (each confirmed as Myo7a+/+ -wild-type by genotyping at UF) were imported from UF to The Jackson Laboratory in March 2020 and used for sperm cryopreservation. A cryo-recovery using C57BL/6J oocytes yielded F1 pups that all had normal retinal function and the cone dysfunction phenotype was again recovered in the F2 generation. We mated a cone dysfunction mutant with DBA/2J for linkage testing and this linkage cross mapped the mutation to Chromosome 19 between D19Mit46 and M19Mit10. The best candidate gene in the region is Pde6c. We did a complementation test between this new mutation and Pde6c<cpfl1> homozygotes and they failed to complement proving them allelic. Having arisen in the laboratory of Dr. Shannon Boye, this new mutation has been designated Pde6c<cpfl1Sboye>. This allele provides another mouse model of human achromatopsia 5 (ACHM5) and is available from the Jackson Laboratory as Stock No. 034725, B6J(Cg)-Pde6c<cpfl1Sboye>/BocJ. |
