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Allele : Smn1<tm6(SMN2)Mrph> survival motor neuron 1; targeted mutation 6, Andrew Murphy

Primary Identifier  MGI:3846546 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 Smn allele D contains four tandem SMN genes. The first is a hybrid gene in which a 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 gene. The next three are identical full-length, 42 kb copies of the human SMN2 gene. A selection cassette located downstream from the final 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 approx. 90% of the processed mRNA derived from each of the gene copies.
  • mutations:
  • Insertion
  • synonyms:
  • Smn Allele D,
  • Smn Allele D
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

0 Driven By

6 Publication categories