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Allele : Scn8a<Clth> sodium channel, voltage-gated, type VIII, alpha; cloth-ears

Primary Identifier  MGI:3827095 Allele Type  Chemically induced (ENU)
Gene  Scn8a Inheritance Mode  Semidominant
Strain of Origin  BALB/cAnN Is Recombinase  false
Is Wild Type  false Project Collection  Harwell ENU Mutagenesis
molecularNote  This mutation was identified in a hearing screen of C3H/HeH-backcross progeny of an ENU mutagenized (BALB/cAnN x C3H/HeH)F1 mouse and was shown by microsatellite analysis to reside on the BALB/cAnN chromosome. It has been identified as an adenine to thymine transversion at nucleotide position 2942, in exon 17, that results in replacement by valine of a highly conserved aspartic acid at amino acid position 981 (D981V), six amino acids carboxy-terminal of the sixth transmembrane segment of the second domain (D2S6).
  • mutations:
  • Single point mutation
  • synonyms:
  • GENA399,
  • GENA399
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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

5 Publication categories