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Allele : Tg(SMN2)1Hung transgene insertion 1, Hung Li

Primary Identifier  MGI:2383995 Allele Type  Transgenic
Attribute String  Inserted expressed sequence Gene  Tg(SMN2)1Hung
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
description  Five lines were generated.

Hemizygous transgenic mice that are also homozygous for Smn1tm1Hung display:

  • a range of spinal muscular atrophy (SMA)-like pathologies characterized as type 1, type 2, and type 3
    • Type 1 animals do not develop hairy fur, and die before postnatal day 10
    • Type 2 animals exhibit poor activity and variable symptoms, and die at approximately 2-4 weeks
    • Type 3 animals survive to adulthood and are fertile, but have short enlarged tails
  • Transgene copy number correlates with the amount of protein that contains the region encoded by exon 7 and the severity of SMA-like phenotypes in these animals
molecularNote  A 115 kb genomic fragment from a BAC clone containing the entire human SMN2 and SERF1A genes, and part of BIRC1, was used as the transgene. Transgenic animals were identified by PCR genotype analysis.
  • mutations:
  • Insertion
  • synonyms:
  • SMN2,
  • SMN2
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1 Feature

Genome

1 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

1 Driven By

11 Publication categories