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Allele : Smn1<tm1.1Cdid> survival motor neuron 1; targeted mutation 1.1, Christine DiDonato

Primary Identifier  MGI:4836034 Allele Type  Targeted
Attribute String  Hypomorph, Modified regulatory region Gene  Smn1
Transmission  Germline Strain of Origin  129/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting vector was used to insert a 3 nucleotide mutation (gga-TTT) in exon 7 of Smn1, within an important splice enhancer element, and a floxed Neo cassette (in the opposite orientation to transcription) in intron 7. The mutation changes the exon splice enhancer into an exon splice silencer, thus greatly reducing the inclusion of exon 7 in transcripts, which results in producing Smn2-like transcripts. Cre mediated recombination deleted the neo cassette, which disrupted efficient transcription of Smn1.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Smn2B- no Neo,
  • Smn2B- no Neo,
  • Smn<2B>,
  • Smn<2B>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

27 Publication categories