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Allele : Tg(SMN2*A111G)588Ahmb transgene insertion 588, Arthur H M Burghes

Primary Identifier  MGI:3847324 Allele Type  Transgenic
Attribute String  Inserted expressed sequence Gene  Tg(SMN2*A111G)588Ahmb
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  A transgenic construct containing the SMN(A111G) missense mutation under the control of 4.1 kb SMN promoter was injected into fertilized FVB/N mouse eggs. Eleven founder lines were obtained and line 588 was subsequently established. This line was found to have 4 copies of the transgene. The transgene integrated on chromosome 8 (119838039-119852117; mouse mm10]), which resulted in a duplication of the 14 kb genomic region in between the two identified fusion points. This duplicated region includes exons 1 and 2 of the Cotl1 locus. It is not known if the duplicated region expresses any Cotl1 isoforms or truncated protein.
  • mutations:
  • Insertion
  • synonyms:
  • line 588,
  • SMN(A111G),
  • A591,
  • SMN(A111G),
  • line 591,
  • line 588,
  • A588,
  • A591,
  • line 591,
  • A588
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1 Feature

Genome

1 Expresses

1 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories