Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol: Jph1tm1Hta 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: Jph1tm1Hta page

Jph1tm1Hta/Jph1tm1Hta skeletal muscle exhibits abnormal sarcoplasmic reticulum Show the 1 phenotype image(s) involving this allele.

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:

7 assay results

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

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)