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Allele : Nbn<tm1Jpt> nibrin; targeted mutation 1, John H J Petrini

Primary Identifier  MGI:2183796 Allele Type  Targeted
Attribute String  Null/knockout Gene  Nbn
Transmission  Germline Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2>
Is Recombinase  false Is Wild Type  false
molecularNote  Exons 4 and 5 were replaced with a floxed PGK-neo cassette via homologous recombination resulting in the deletion of the BRCT domain. An 80 kDa protein was expressed from the mutant allele as a result of a start codon originating in the PGK-neo cassette and splicing from intron 5 to exon 6. The mutant protein lacks the FHA and BRCT domains and retains Mre11a-binding activity.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • Nbs1<deltaB>,
  • Nbs1<deltaB>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

23 Publication categories

Trail: Allele