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Allele : Smn1<tm1.1Dscd> survival motor neuron 1; targeted mutation 1.1, Dawn S Chandler

Primary Identifier  MGI:4836979 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Smn1
Transmission  Germline Strain of Origin  129S/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 7 was replaced with one in which a C to T transition, mimicking a mutation found in proximal spinal muscular atrophy (SMA) patients, results in exclusion of exon 7 from the premRNA. An FRT flanked neo cassette inserted upstream of exon 7 and was removed by flp mediated recombination. Reduced protein expression was confirmed by western blot analysis on kidney, liver, brain, spinal cord, and quadricep extracts.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Smn C&gtT,
  • Smn C&gtT
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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

4 Publication categories