Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Kcnq1ot1tm2Tilg
Name:	KCNQ1 overlapping transcript 1; targeted mutation 2, Shirley M Tilghman
MGI ID:	MGI:3773025
Synonyms:	Promdelta
Gene:	Kcnq1ot1  Location: Chr7:142766848-142850284 bp, - strand  Genetic Position: Chr7, 88.15 cM
Alliance:	Kcnq1ot1tm2Tilg page

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

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: 244 bp of the gene promoter was deleted and a self-excising selection cassette was placed downstream of the gene. The deleted sequence included two of the three DNAse hypersensitive sites in the promoter and the gene transcription start site but left most of the CpG island intact. After recombination and generation of chimeric mice, the selection cassette excised itself in the male germline leaving behind a single loxP site. Heterozygous mice that inherit the deletion paternally do not express the gene transcript as determined by RNAse protection assay. (J:108700)

View phenotypes and curated references for all genotypes (concatenated display).

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

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:	3 reference(s)