Dclre1c^tm1Jsek
Targeted Allele Detail

Summary

• Symbol: Dclre1c^tm1Jsek
• Name: DNA cross-link repair 1C; targeted mutation 1, JoAnn Sekiguchi
• MGI ID: MGI:3843046
• Synonyms: Artemis-P70, Art^P70
• Gene: Dclre1c Location: Chr2:3425168-3465167 bp, + strand Genetic Position: Chr2, 1.93 cM
• Alliance: Dclre1c^tm1Jsek page

Mutation origin

• 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⁺

Mutation description

Allele Type: Targeted Mutations: Insertion, Nucleotide substitutions Mutation details: Two 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 Dclre1c^tm1Jsek allele

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Dclre1c^tm1Jsek

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: 30 strains or lines available

References

• 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)