Kcnq1ot1^tm1Tilg
Targeted Allele Detail

Summary

• Symbol: Kcnq1ot1^tm1Tilg
• Name: KCNQ1 overlapping transcript 1; targeted mutation 1, Shirley M Tilghman
• MGI ID: MGI:3773017
• Synonyms: DMRdelta, KvDMR^-
• Gene: Kcnq1ot1 Location: Chr7:142766848-142850284 bp, - strand Genetic Position: Chr7, 88.15 cM
• Alliance: Kcnq1ot1^tm1Tilg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:108700
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A floxed neomycin resistance cassette replaced the CpG island, three DNAse hypersensitive sites in the promoter of the gene, and five repeat sequences that lie within the transcript of the gene. After recombination and generation of chimeric mice, Cre was transiently expressed to remove the neomycin cassette, leaving a single loxP site behind. Heterozygous mice that inherit the deletion paternally do not express the gene transcript as determined by RNAse protection assay. (J:108700)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Kcnq1ot1 Mutation: 0 strains or lines available

References

• Original: J:108700 Mancini-Dinardo D, et al., Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes. Genes Dev. 2006 May 15;20(10):1268-82
• All: 2 reference(s)