Chrne^tm1Jrs
Targeted Allele Detail

Summary

• Symbol: Chrne^tm1Jrs
• Name: cholinergic receptor, nicotinic, epsilon polypeptide; targeted mutation 1, Joshua R Sanes
• MGI ID: MGI:2450149
• Gene: Chrne Location: Chr11:70505709-70510042 bp, - strand Genetic Position: Chr11, 43.14 cM
• Alliance: Chrne^tm1Jrs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:74958
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 1.4 kb fragment encompassing exons 2 through 5 was replaced with neomycin selection cassette inserted by homologous recombination. The deleted region encodoed 150 amino terminal residues, which are essential for proper subunit assembly of the acetylcholine receptor. RNAse protection identified reduced levels of transcript in homozygous mutant muscle tissue. Immunostaining using an antibody directed against the carboxy terminal indicated an absence of protein at neuromuscular junctions. (J:74958)

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 Chrne Mutation: 22 strains or lines available

References

• Original: J:74958 Missias AC, et al., Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit. Development. 1997 Dec;124(24):5075-86
• All: 1 reference(s)