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Allele : Tg(SMN2-SMN1*Q282A)2Ahmb transgene insertion 2, Arthur H M Burghes

Primary Identifier  MGI:6189119 Allele Type  Transgenic
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tg(SMN2-SMN1*Q282A)2Ahmb
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  The transgenic construct contains a human SMN1 cDNA carrying the p.Gln282Ala missense mutation in exon 7 under the control of a 4.1 kb SMN promoter derived from the SMN2 gene. Founder line 2 carries eight copies of the transgene. The transgene integrated on chromosome 11 (70055009-70372513; mouse mm10]) resulting in a duplication of the 317 kb genomic region between the two identified fusion points. This duplicated region includes several loci (Asgr1, Asgr2, Mgl2, Clec10a, Slc16a11, Slc16a13, Bcl6b, Mir497b, Rnasek, Alox12 and Alox15).
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • SMNQ282A,
  • SMNQ282A
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1 Feature

Genome

0 Expresses

11 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories