There have been several remutations to Ames waltzer (Pcdh15av) have occurred in stocks at The Jackson Laboratory. All mice homozygous for these remutations show the characteristic head-tossing, circling, and deafness characteristic of Ames waltzer. Ames waltzer 2J homozygous mutant mice (Pcdh15av-2J/Pcdh15av-2J) are more severely afflicted than mice homozygous for the other Jackson (J) remutations. Pcdh15av-2J/Pcdh15av-2J homozygotes become disoriented and sink in swim tests; Ames waltzer 3J homozygotes (Pcdh15av-3J/Pcdh15av-3J), like Ames waltzer-J (Pcdh15av/Pcdh15av), swim with difficulty and circle afloat. In the membranous labyrinth the fluid spaces in the Organ of Corti fail to develop. Later, hair cells and spiral ganglion cells degenerate.
Ames waltzer Jackson (Pcdh15av-J) arose spontaneously in strain C57BL/Ks in 1964 at the Jackson Laboratory. An affected female was crossed to a C57BL/6J male and the stock was maintained by sibling matings using forced heterozygosis. Embryos were generated for cryopreservation in 1982 using heterozygous males at F37N3 bred with C57BL/6J females.
|Allele Name||Ames waltzer Jackson|
|Gene Symbol and Name||Pcdh15, protocadherin 15|
|Strain of Origin||C57BLKS/J|
|General Note||Several remutations to Pcdh15 have occurred in stocks at The Jackson Laboratory. All show the characteristic head-tossing, circling, and deafness (J:28688).|
|Molecular Note||The mutation is a 834 bp deletion that is predicted to delete 278 amino acids from the extracellular domain of the encoded protein.|