| Primary Identifier | MGI:6336171 | Allele Type | Targeted |
| Attribute String | Hypomorph, Modified regulatory region | Gene | Del(18Rr72-Rr75)7Tyag |
| Strain of Origin | (C57BL/6NCrlj x CBA/JNCrlj)F1 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | This allele follows the meiotic cre-mediated recombination between the Pcdhgtm1.1Tyag and Rr75tm1.1Tyag alleles. Recombination between the two alleles results in the deletion of 37kb of sequence containing regulatory regions Rr72 (HS16), Rr73 (HS17-17'), Rr74 (HS18), and Rr75 (HS19-20), plus the Diaph1 gene on the opposite strand. The regulatory regions are located downstream of the Pcdhg cluster (and upstream of the neighboring Diaph1 gene on the reverse strand) and regulate expression of the genes in the Pcdhg and Pcdhb clusters. In this deletion allele expression of most Pcdhg exons tested is reduced (A3, A4, A5, A10, B2, B6, B7, C3, C4, and CR) except A6, B4, and C5, which are unaffected, and A7, which is increased. All Pcdhb genes tested (Pcdhb2, -3, -5, -7, -8, -12, -13, -16, -17, -19, -21, and -22) show severely reduced expression to less than 10%. Examination of allele specific SNPs in heterozygous deletion mice shows that the regulation is in cis. The deletion has no effect on the transcription of the Slc25a2 and Taf7 genes, which are located between the Pcdhb and Pcdhg clusters. |
