Primary Identifier | MGI:1856150 | Allele Type | Spontaneous |
Gene | Bmp5 | Inheritance Mode | Recessive |
Strain of Origin | mice from Abbie Lathrop mouse farm | Is Recombinase | false |
Is Wild Type | false |
description | Phenotypic Similarity to Human Syndrome: Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome) in homozygous mice (J:24474) |
molecularNote | 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. |