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Targeted Allele Detail
Symbol: Jph1tm1Hta
Name: junctophilin 1; targeted mutation 1, Hiroshi Takeshima
MGI ID: MGI:2183252
Gene: Jph1  Location: Chr1:16964560-17097889 bp, - strand  Genetic Position: Chr1, 5.17 cM, cytoband A4
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 detailsThe 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).
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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:  18 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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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