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Targeted Allele Detail
Symbol: Dclre1ctm1Jsek
Name: DNA cross-link repair 1C; targeted mutation 1, JoAnn Sekiguchi
MGI ID: MGI:3843046
Synonyms: Artemis-P70, ArtP70
Gene: Dclre1c  Location: Chr2:3424131-3464130 bp, + strand  Genetic Position: Chr2, 1.93 cM
Germline Transmission:  Earliest citation of germline transmission: J:147864
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsTwo point mutations were introduced into exon 14 to substitute a premature stop codon for the aspartate at amino acid position 449 (D449X). This mimics the "Artemis-P70" allele in humans where a 7-nt deletion results in a frameshift at D451 followed by a premature stop codon 10 amino acids downstream. For targeting purposes, a loxP-flanked neomycin resistance cassette was included downstream of exon 14 that was subsequently removed by crossing with cre transgenic mice. Expression of the mutant allele was similar to the endogenous allele as determined by Northern and Q-PCR analysis of splenic RNA from homozygote mice. (J:147864)
Generation of the Dclre1ctm1Jsek allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 anatomical structures
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 Dclre1c Mutation:  20 strains or lines available
Original:  J:147864 Huang Y, et al., Impact of a hypomorphic Artemis disease allele on lymphocyte development, DNA end processing, and genome stability. J Exp Med. 2009 Apr 13;206(4):893-908
All:  2 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
MGI 6.15
The Jackson Laboratory