Primary Identifier | MGI:1861121 | Allele Type | Radiation induced |
Gene | Sfn | Inheritance Mode | Semidominant |
Strain of Origin | Not Specified | Is Recombinase | false |
Is Wild Type | false |
description | Sfn is on Chr 4 close to pupoid fetus (pf), a mutant which SfnEr closely resembles. |
molecularNote | A single T insertion between base pairs 623 and 624 (cDNA from transcript ENSMUST00000057311.4) causes a frameshift mutation at amino acid residue 207 truncating the C-terminus of the protein (ADLHTLSEDSY TO ADLHTLQ[STOP]). This eliminates residues required for ligand interaction. Production of truncated protein was demonstrated immunologically. The hair-loss phenotype could be rescued using a Sfn containing transgene. |