Primary Identifier | MGI:1888413 | Allele Type | Spontaneous |
Gene | Lmx1a | Inheritance Mode | Recessive |
Strain of Origin | C3FeB6 A/A<w-J>-Ank<ank>/J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | A G-to-A transition mutation results in a conserved cysteine to a tyrosine amino acid change at position 82 (p.C82Y) in the LIM1 domain of the encoded protein. The conserved cysteine is thought to be required for coordination of zinc that is essential for the function of the LIM domain, and thus the transcriptional activity of the protein. |