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Allele : Dclre1c<tm1Jsek> DNA cross-link repair 1C; targeted mutation 1, JoAnn Sekiguchi

Primary Identifier  MGI:3843046 Allele Type  Targeted
Gene  Dclre1c Transmission  Germline
Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+> Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Artemis-P70,
  • Art<P70>,
  • Artemis-P70,
  • Art<P70>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories

Trail: Allele