Primary Identifier | MGI:2681117 | Allele Type | Radiation induced |
Gene | In(7Oca2;7Sox6)100H | Inheritance Mode | Recessive |
Strain of Origin | Not Specified | Is Recombinase | false |
Is Wild Type | false |
molecularNote | This chromosome 7 inversion was induced by irradiation with 3 + 3 Gy. The proximal and distal breakpoints were localized to intron 23 of the Oca2 (p) locus and to a 3' intron of the Sox6 locus, respectively. Transcript was produced at both of the readjoined breakpoints. The transcript arising from the proximal site consisted of Oca2 exons 1 through 23 and Sox6 3' exons and is affected by a frameshift mutation that putatively leads to the substitution of the 27 residues encoded by Oca2 exon 24, which make up the last transmembrane domain, with 78 residues encoded by the frameshifted Sox6 sequence. The transcript produced at the distal breakpoint consisted of 5' Sox6 sequence adjoined to exon 24 of the Oca2 locus. A nonsense mutation was generated 11 codons downstream of the breakpoint precluding the translation of the HMG DNA binding domain. |