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Rtel1tm2.1Hdin
Targeted Allele Detail
Summary
Symbol: Rtel1tm2.1Hdin
Name: regulator of telomere elongation helicase 1; targeted mutation 2.1, Hao Ding
MGI ID: MGI:5559530
Synonyms: RTEL1IAv5
Gene: Rtel1  Location: Chr2:180961532-180998409 bp, + strand  Genetic Position: Chr2, 103.63 cM
Alliance: Rtel1tm2.1Hdin page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:202812
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 34 was replaced with a modified one in which nucleotide substitutions (ATC to GCC) result in the amino acid substitution of alanine for isoleucine at position 1169 (I1169A) and a V5 epitope tag. This mutation abolishes the PCNA-binding site. Cre-mediated recombination removed a floxed splice acceptor, IRES and beta-geo cassette inserted upstream of the modified exon 34. (J:202812)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Rtel1 Mutation:  73 strains or lines available
References
Original:  J:202812 Vannier JB, et al., RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication. Science. 2013 Oct 11;342(6155):239-42
All:  1 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
03/19/2024
MGI 6.23
The Jackson Laboratory