Del(18Rr72-Rr75)7Tyag
Targeted Allele Detail

Summary

• Symbol: Del(18Rr72-Rr75)7Tyag
• Name: deletion, Chr 18, Takeshi Yagi 7
• MGI ID: MGI:6336171
• Synonyms: Del(18Rr72-Rr75)1Tyag, Del7Tyag, deltaHS16-20
• Gene: Del(18Rr72-Rr75)7Tyag Location: unknown Genetic Position: Chr18, Syntenic

Mutation origin

• Strain of Origin: (C57BL/6NCrlj x CBA/JNCrlj)F1

Mutation description

• Allele Type: Targeted (Hypomorph, Modified regulatory region)
• Mutations: Insertion, Intergenic deletion, Intragenic deletion
• Del(18Rr72-Rr75)7Tyag involves 5 genes/genome features (Rr74, Rr73, Rr72 ...) View all
• Mutation details: This allele follows the meiotic cre-mediated recombination between the Pcdhg^tm1.1Tyag and Rr75^tm1.1Tyag 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. (J:277249)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Del(18Rr72-Rr75)7Tyag Mutation: 0 strains or lines available

References

• Original: J:277249 Yokota S, et al., Identification of the cluster control region for the protocadherin-beta genes located beyond the protocadherin-gamma cluster. J Biol Chem. 2011 Sep 9;286(36):31885-95
• All: 1 reference(s)