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Allele : Scn8a<med> sodium channel, voltage-gated, type VIII, alpha; motor end plate disease

Primary Identifier  MGI:1856078 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Scn8a
Inheritance Mode  Recessive Strain of Origin  PCT
Is Recombinase  false Is Wild Type  false
molecularNote  The mutation was identified as a small LINE element insertion into exon 2 of the Scn8a gene. This results in exon skipping which is influenced by the AT-AC splice sites in intron 2, and generates a very short inactive protein. This allele is a predicted null.
  • mutations:
  • Insertion
  • synonyms:
  • med,
  • med
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

44 Publication categories

Trail: Allele