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

Symbol:	Kcnq1ot1tm4Tilg
Name:	KCNQ1 overlapping transcript 1; targeted mutation 4, Shirley M Tilghman
MGI ID:	MGI:3773036
Synonyms:	Repdelta
Gene:	Kcnq1ot1  Location: Chr7:142766848-142850284 bp, - strand  Genetic Position: Chr7, 88.15 cM
Alliance:	Kcnq1ot1tm4Tilg 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: Five evolutionarily conserved 30-bp repeated sequences in the proximal end of the transcript were deleted in a 657 bp region. A self-excising selection cassette was also placed downstream of the gene. 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 transcribe a truncated RNA that is missing the 657 bp of sequence but is otherwise a full length transcript. (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:	1 reference(s)