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Allele : Spast<M1Gri> spastin; mutation 1, Andrew J Grierson

Primary Identifier  MGI:3813522 Allele Type  Chemically induced (ENU)
Gene  Spast Inheritance Mode  Dominant
Strain of Origin  BALB/cAnN Is Recombinase  false
Is Wild Type  false
molecularNote  This mutation comprises a T to G transversion at the +2 position of the seventh intron, which results in the generation of transcripts lacking exon 7 and instead containing 50 novel C-terminal amino acids preceding a premature termination codon. The absence of protein expression was confirmed by western blot analysis on brain extracts.
  • mutations:
  • Single point mutation
  • synonyms:
  • Spast<deltaE7>,
  • Spast<deltaE7>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories