Primary Identifier | MGI:6364029 | Allele Type | Spontaneous |
Attribute String | Hypomorph | Gene | Il2ra |
Inheritance Mode | Semidominant | Strain of Origin | B6.129S4-Ccr2<tm1Ifc>/J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | This spontaneous point substitution of T-to-C at coding nucleotide 436 im exon 4 results in the replacement of a highly conserved tyrosine with histidine at position 146 (p.Y146H) in the SVHYECIP motif, which results in ER retention of this mutant protein and diminished cell surface expression. |