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| Nomenclature |
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Symbol:
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Dclre1ctm1Jsek
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Name:
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DNA cross-link repair 1C, PSO2 homolog (S. cerevisiae);
targeted mutation 1, JoAnn Sekiguchi
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MGI ID: |
MGI:3843046 |
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Synonyms: |
Artemis-P70, ArtP70 |
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Gene:
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Dclre1c
Location:
Chr2:3424131-3464130 bp, + strand
Genetic Position: Chr2,
1.93 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:147864
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Dclre1c Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
