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Rr27tm1Rohl
Targeted Allele Detail
Summary
Symbol: Rr27tm1Rohl
Name: regulatory region 27; targeted mutation 1, Rolf Ohlsson
MGI ID: MGI:2653959
Synonyms: H19tm1Rohl
Gene: Rr27  Location: Chr7:142133885-142136283 bp  Genetic Position: Chr7, Syntenic
Alliance: Rr27tm1Rohl 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 detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  7 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:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory