Obscn^tm1.1Geno
Targeted Allele Detail

Summary

• Symbol: Obscn^tm1.1Geno
• Name: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF; targeted mutation 1.1, Genoway
• MGI ID: MGI:6757165
• Synonyms: obscurin^R4344Q
• Gene: Obscn Location: Chr11:58885082-59027201 bp, - strand Genetic Position: Chr11, 36.4 cM
• Alliance: Obscn^tm1.1Geno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243723
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An arginine to glutamine substitution at residue 4344 (R4344Q) was introduced in exon 60. An FRT-flanked neomycin selection cassette and loxP site were inserted in intron 59 along with a second loxP site in intron 61 so that the mutant exon 60 and exon 61 are floxed. The selection cassette was removed via Flp-mediated recombination. (J:243723)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Obscn Mutation: 420 strains or lines available

References

• Original: J:243723 Hu LR, et al., Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurin. Sci Adv. 2017 Jun;3(6):e1603081
• All: 2 reference(s)