Primary Identifier | MGI:4429408 | Allele Type | Spontaneous |
Gene | Pitx3 | Strain of Origin | C3H/He |
Is Recombinase | false | Is Wild Type | false |
description | The C3H congenic strain in which this mutation was discovered bore a QTL derived from 102/El that had been backcrossed onto C3H from a descendant of a T stock x (C3H/He x 102/El)F1 cross. (J:75213) |
molecularNote | A guanosine was inserted at position 416 in exon 4 in addition to two C3H/He-specific polymorphisms. This insertion creates a frameshift after amino acid position 139. The predicted peptide contains 260 amino acids instead of 302 amino acids. Expression levels are not affected. |