| Primary Identifier | MGI:2682007 | Allele Type | Spontaneous |
| Gene | Kitl | Inheritance Mode | Semidominant |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | This spontaneous mutation arose in a C57BL/6J breeding colony at The Jackson Laboratory. |
| molecularNote | Long-range PCR demonstrated that this mutation is an in-frame tandem duplication of exon 3 which also involves duplication of introns 3 and 2. At the junction between intron 3 and intron 2 there is an inverted 141 bp duplication of a sequence found later in intron 2. The duplication of exon 3 results in a loss of function in the expressed protein due either to defective binding to its receptor or failure to activate the receptor once bound. |
