There have been several remutations to Ames waltzer (av) that 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 2 Jackson homozygous mutant mice (av2J/av2J) are more severely afflicted than mice homozygous for the other Jackson (J) remutations. av2J/av2J homozygotes become disoriented and sink in swim tests; Ames waltzer 3 Jackson homozygotes (av3J/av3J), like Ames waltzer Jackson homozygotes (avJ/avJ), 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 2 Jackson (Pcdh15av-2J) arose in a linkage cross between B6C3Fe-a/a and strain CHMU/Le in 1989. CHMU/Le (Stock No. 000293) is a balanced recessive stock with congenital hydrocephalus (Foxc1ch) on one Chromosome 13 and muted (Bloc1s5mu) on the other. The mutation av-2J, on Chromosome 10, was backcrossed to the hybrid B6C3Fe-a/a for 8 generations. Embryos were generated for cryopreservation in 1993 using heterozygous females at N7-N8 and homozygous males at N6-N8.
|Gene Symbol and Name||a, nonagouti|
|Strain of Origin||old mutant of the mouse fancy|
|General Note||Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039|
|Molecular Note||Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.|
|Allele Name||Ames waltzer 2 Jackson|
|Gene Symbol and Name||Pcdh15, protocadherin 15|
|Strain of Origin||linkage stock|
|General Note||Homozygotes for Pcdh15av-2J are more severely afflicted than those for other J remutations. Pcdh15av-2J homozygotes become disoriented and sink in swim tests (J:28688).|
|Molecular Note||A deletion of 81 bp in the coding sequence near the 5' end of the gene is predicted to eliminate 27 amino acids of the extracellular domain of the encoded protein.|