| Primary Identifier | MGI:1856684 | Allele Type | Spontaneous |
| Gene | Tbc1d20 | Inheritance Mode | Recessive |
| Strain of Origin | AKR/J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | Positional cloning identified a c.691T>A substitution and c.692_703del deletion (in-frame p.Arg232_Val235 deletion) in exon 6, which togther result in p.Phe231_Val235delinsMet. Functional analysis indicates this is a loss of function mutation. |
