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Allele : Smn1<tm5(Smn1/SMN2)Mrph> survival motor neuron 1; targeted mutation 5, Andrew Murphy

Primary Identifier  MGI:3794202 Allele Type  Targeted
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Smn1
Transmission  Germline Strain of Origin  (129S6/SvEvTac x C57BL/6NTac)F1
Is Recombinase  false Is Wild Type  false
molecularNote  The allele encodes two coding sequences: the first is a hybrid gene in which a 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn1 gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 gene and the second is a full 42 kb copy of the human SMN2 gene. A selection cassette located downstream from the human SMN2 polyadenylation signal was removed by FLPe expression in ES cells leaving a FRT site at the downstream junction between human and mouse DNA. Because exon 7 is derived from human SMN2, it is skipped in approximately 90% of the processed mRNA derived from both genes. 2 independent clones for this allele were generated and clone A2 was used to generated mice.
  • mutations:
  • Insertion
  • synonyms:
  • Smn allele C,
  • Smn allele C
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

6 Carried By

Trail: Allele

0 Driven By

12 Publication categories

Trail: Allele