Scn4a^tm1Ljh
Targeted Allele Detail

Summary

• Symbol: Scn4a^tm1Ljh
• Name: sodium channel, voltage-gated, type IV, alpha; targeted mutation 1, Lawrence J Hayward
• MGI ID: MGI:3763891
• Synonyms: SCN4a^M1592V, Scn4a^tm1Cann
• Gene: Scn4a Location: Chr11:106209418-106244114 bp, - strand Genetic Position: Chr11, 68.91 cM
• Alliance: Scn4a^tm1Ljh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:125885
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: A floxed neo cassette was inserted downstream of exon 23 and exon 24 was replaced with one that contained a nucleotide substitution that resulted in an amino acid substitution of a valine for a methionine at position 1592 (M1592V). (J:135831)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Scn4a Mutation: 70 strains or lines available

References

• Original: J:125885 Lueck JD, et al., Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am J Physiol Cell Physiol. 2007 Apr;292(4):C1291-7
• All: 2 reference(s)