A Remutation to Cauliflower Ear

 

 

Michelle Curtain, Joiel Bauschatz, Julie Hurd, Jill Giggey,

and Leah Rae Donahue, Ph.D.

 

Source of Support: This research was supported by a grant awarded to The Jackson Laboratory by the National Eye Institute titled "Gene Discovery For Craniofacial Disorders" (ROI EY 015073- Dr. Leah Rae Donahue, PI).

Mutation (allele) symbol: cfe-se6J

Mutation (allele) name: cauliflower ear-short ear 6J

Gene Symbol: Bmp5 (Bmp5)

Source of Origin: Balb/cByJ-Agtpbp1pcd3J/J

Current strain name: Balb/cByJ-Agtpbp1pcd-3J-Bmp5cfe-se6J/J

Stock #:005348

Phenotype Category: craniofacial

Discoverer: Belinda Harris

 

In July 2004, a remutation to Bmp5 was discovered. Belinda Harris of the Mouse Mutant Resource at The Jackson Laboratory, discovered a short ear phenotype on the BALB/cByJ-Agtpbp1pcd3/J background. Phenodeviants had scalloped edges about their ear pinna similar to the cauliflower remutation to the short ear (Bmp5) mutation. An allele test with our "cauliflower ear" strain C.129S7Gt(ROSA)26Sor cfe-Se7J (JR 5420), confirmed that nm 3709 was a remutation. We demonstrated this by mating a Balb/cByJ-Agtpbp1pcd-3J-nm3709/J (JR 5348) to a C.129S7Gt(ROSA)26Sor cfe-Se7J homozygote. All seven offspring were affected; the allele test was positive. A breathing colony is no longer available; sperm has been cryopreserved.