This cryopreserved bankstock is still segregating for Agtpbp1pcd-3J so recovered pups may or may not carry one copy of this recessive allele.
The ear pinnae of homozygotes are ragged around the edges, yet uniform, and smaller than normal.
The cauliflower ear 6 Jackson mutation arose spontaneously on the BALB/cByJ-Agtpbp1pcd-3J/J background at The Jackson Laboratory in 2004 and was maintained on this background by sibling intercrossing. In 2005 sperm was cryopreserved from homozygous males at generation +F4. When recovered from cryopreservation the recessive pcd-3J mutation was found still segregating in this cryopreserved mutant subline.
|Allele Name||Purkinje cell degeneration 3 Jackson|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Agtpbp1, ATP/GTP binding protein 1|
|Strain of Origin||BALB/cByJ|
|Molecular Note||This allele comprises a deletion estimated at approximately 12.2 kb, creating a splice junction between exons 5 and 9 that introduces a premature stop codon. Northern analysis of brain and testis samples showed that mRNA was reduced in abundance and size using probes derived from exons 16 to 19. mRNA was undetectable with a probe from exon 8.|
|Allele Name||cauliflower ear short ear 6 Jackson|
|Gene Symbol and Name||Bmp5, bone morphogenetic protein 5|
|Strain of Origin||BALB/cByJ-Agtpbp1pcd-3J/J|
|Molecular Note||A failed complementation test with the Bmp5cfe-se7J mutation showed that this mutation is an allele of Bmp5.|