Rr27^tm1Rohl
Targeted Allele Detail

Summary

• Symbol: Rr27^tm1Rohl
• Name: regulatory region 27; targeted mutation 1, Rolf Ohlsson
• MGI ID: MGI:2653959
• Synonyms: H19^tm1Rohl
• Gene: Rr27 Location: unknown Genetic Position: Chr7, Syntenic
• Alliance: Rr27^tm1Rohl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:82427
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Modified regulatory region, Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: The first, third, and fourth Ctcf target sites within the imprinting control region (ICR) were modified from GTGG to ATAT via site directed mutagenesis. A floxed neomycin resistance gene cassette that was included in the targeting vector for selection was excised via in vivo cre-mediated recombination in the germline. (J:82427)

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 Rr27 Mutation: 6 strains or lines available

Notes

Disruption of the Ctcf target sites within the imprinting control region results in a loss of Ifg2 and H19 imprinting when the mutant allele is passaged through the female germline. The loss of imprinting is associated with an 11% increase in neonatal body weight.

References

• Original: J:82427 Pant V, et al., The nucleotides responsible for the direct physical contact between the chromatin insulator protein CTCF and the H19 imprinting control region manifest parent of origin-specific long-distance insulation and methylation-free domains. Genes Dev. 2003 Mar 1;17(5):586-90
• All: 4 reference(s)