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Allele : Lig1<tm3Dwm> ligase I, DNA, ATP-dependent; targeted mutation 3, David W Melton

Primary Identifier  MGI:2183413 Allele Type  Targeted
Attribute String  Humanized sequence, Hypomorph Gene  Lig1
Transmission  Germline Strain of Origin  129P2/OlaHsd-Hprt1<b-m3>
Is Recombinase  false Is Wild Type  false
description  Mice were generated from mutant HM-1 ES cells heterozygous for Lig1tm2Dwm.
molecularNote  A C to T transversion in codon 771 (exon 23) resulted in the substitution of Arg with Trp (R771W), a mutation initially identified in a patient with symptoms similar to Bloom's syndrome. Sequence analysis of RT-PCR products confirmed that the point mutation in exon 23 was the only change in the coding region of the endogenous gene.
  • mutations:
  • Single point mutation
  • synonyms:
  • Lig1<46BR>,
  • Lig1<46BR>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories