A cauliflower remutation to Bmp-5
Jill Giggey, Joiel Bauschatz, Michelle Curtain, Julie Hurd
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" (RO1 EY 015073- Dr. Leah Rae Donahue, PI).
Mutation (allele) symbol: cfe-se8J
Mutation (allele) name: cauliflower ear-short ear 8J
Gene symbol: Bmp-5 (Bmp5)
Strain of origin: CByB6 Hybrid
Current strain name: CBy;B6-Bmp5<cfe-se8J>/J
Stock #: 005421
Phenotype Category: craniofacial
Discoverer: Stephanie Stark
We report here a new cauliflower remutation to Bmp5 that arose spontaneously in the CbyB6 hybrid colony. The recessive mutation was discovered at the Jackson Laboratory in the ENU Mutagenesis Program in 2005. The homozygous mutation is characterized by small ears and ruffles around the perimeter of the ear pinnae. The stock is currently maintained by mating a BALB/cByJ male or female to a cfe-se8J/cfe-se8J of the opposite sex. F1 progeny are then mated together to produce mutants in the F2 progeny. Both male and female mutants and control littermates are fertile; females have normal litter sizes and lactate frequently. An allele test with C.129S7-Gt(ROSA)26Sor-Bmp5cfe-se7J confirmed the re-mutation to Bmp5. A female Bmp5cfe-se7J/Bmp5cfe-se7J was mated to a male Bmp5cfe-se8J/Bmp-5cfe-se8J and 16 out of 16 pups had small ears with ruffled ear pinnae.
Phenotypically, mice with the short ear mutation develop characteristic skeletal defects, including reduction of the external ear, loss of several small bones, alterations in size or shape of the xiphoid process, reduction of ventral processes at the sixth cervical vertebrae and deletion of one pair of ribs (Green and Green, 1946; Green, 1951,1968). An x-ray of Bmp5cfe-se7J/Bmp5cfe-se7J mice did not display these characteristic phenotypes and neither does this remutation.
