Jph1^tm1Hta
Targeted Allele Detail

Summary

• Symbol: Jph1^tm1Hta
• Name: junctophilin 1; targeted mutation 1, Hiroshi Takeshima
• MGI ID: MGI:2183252
• Gene: Jph1 Location: Chr1:17034784-17168113 bp, - strand Genetic Position: Chr1, 5.17 cM, cytoband A4
• Alliance: Jph1^tm1Hta page

Jph1^tm1Hta/Jph1^tm1Hta skeletal muscle exhibits abnormal sarcoplasmic reticulum

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:77652
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The coding region of exon 1 was replaced with a neomycin selection cassette. Western blot analysis confirmed the absence of protein encoded by the targeted locus in homozygous mutant mice. (J:77652)

Expression

In Mice Carrying this Mutation:

7 assay results

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 Jph1 Mutation: 34 strains or lines available

References

• Original: J:77652 Ito K, et al., Deficiency of triad junction and contraction in mutant skeletal muscle lacking junctophilin type 1. J Cell Biol. 2001 Sep 3;154(5):1059-67
• All: 2 reference(s)