Scn4a^tm1.1Ljh
Targeted Allele Detail

Summary

• Symbol: Scn4a^tm1.1Ljh
• Name: sodium channel, voltage-gated, type IV, alpha; targeted mutation 1.1, Lawrence J Hayward
• MGI ID: MGI:4366146
• Synonyms: SCN4a^M1592V
• Gene: Scn4a Location: Chr11:106209418-106244114 bp, - strand Genetic Position: Chr11, 68.91 cM
• Alliance: Scn4a^tm1.1Ljh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:153497
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The targeting vector inserts a missense substitution changing a methionine to a valine at amino acid position 1592 (M1592V) in exon 24 and a loxP flanked neo cassette in intron 23. The neo cassette is removed by transient infection with a Cre recombinase expressing plasmid leaving a single loxP site downstream of exon 23. (J:135831, J:153497)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Scn4a Mutation: 71 strains or lines available

References

• Original: J:153497 Hayward L, Creation of the M1592V mutation in Scn4a. MGI Direct Data Submission. 2009
• All: 7 reference(s)