Allele/Variant

Dclre1ctm1Jsek

Species
Mus musculus
Symbol
Dclre1ctm1Jsek
Category
allele
Allele of gene
Dclre1c
Transgenic Constructs
None
Synonyms
  • ArtP70
  • Artemis-P70
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

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