Primary Identifier | MGI:4821979 | Allele Type | Targeted |
Attribute String | Hypomorph | Gene | Sptbn2 |
Transmission | Germline | Strain of Origin | 129P2/OlaHsd |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The exons 3-6 were replaced with PGK-neo cassette by targeted recombination. The resulting allele, when exon 2 is spliced onto exon 7, disrupt the open reading frame, introducing a premature stop codon at the beginning of exon 7. Western blot analysis using a C-terminal specific antibody onto whole cerebellar homogenates confirmed absence of full-length protein. However, a low level of a form of gene product with a reduced function resulting from exon1 spliced onto exon 7 that lacks most of the actin-binding domain encoded by exons 2-6 was expressed. This is a hypomorphic allele. |