Jph1<tm1Hta> Targeted Allele Detail MGI Mouse (MGI:2183252)

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)

Phenotypes

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

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)

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