Short ear (Bmp5se) arose spontaneously in mice obtained from a commercial breeder about 1921. (Lynch C.H. 1921). The short ear mutation (Bmp5se) present in inbred strain P/J (Stock No. 000679) was backcrossed onto the C57BL/6J strain for 10 generations between the years 1963 to 1968. It was cryopreserved in 1979 by mating C57BL/6J females to homozygous males at N33 to generate embryos.
|Allele Name||short ear|
|Gene Symbol and Name||Bmp5, bone morphogenetic protein 5|
|Strain of Origin||mice from Abbie Lathrop mouse farm|
|General Note||Phenotypic Similarity to Human Syndrome: Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome) in homozygous mice (J:24474)|
|Molecular Note||The C to T substitution creates a stop codon at arginine codon 208 (p.R208*). The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule.|