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Allele : Clcn1<adr-mto> chloride channel, voltage-sensitive 1; myotonia

Primary Identifier  MGI:1855953 Allele Type  Spontaneous
Gene  Clcn1 Inheritance Mode  Recessive
Strain of Origin  SWR/J Is Recombinase  false
Is Wild Type  false
molecularNote  A nonsense mutation at codon 47 (C to T substitution) changes an arginine residue into a stop codon ahead of the first transmembrane region of Clcn1. Northern analyses of adult skeletal muscle using a 5' and a 3' rat cDNA Clcn1 probe detected wild-type size transcript in homozygous mutant mice (J:752).
  • mutations:
  • Single point mutation
  • synonyms:
  • adr<mto>,
  • adr<mto>
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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

15 Publication categories

Trail: Allele