Primary Identifier | MGI:1857338 | Allele Type | Spontaneous |
Gene | Ebp | Inheritance Mode | Dominant |
Strain of Origin | (C57BL/6J x Mus spretus)F1 x C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | Two point mutations are responsible for the mutant phenotype: a T to C transition at coding nucleotide 395 and an A to T transversion at coding nucleotide 397. These mutations alter the corresponding amino acids 132 and 133 from leucine and serine to proline and cysteine (p.(Leu132_Ser133delinsProCys)). |