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Targeted Allele Detail
Symbol: Chrnetm1Jrs
Name: cholinergic receptor, nicotinic, epsilon polypeptide; targeted mutation 1, Joshua R Sanes
MGI ID: MGI:2450149
Gene: Chrne  Location: Chr11:70614883-70619216 bp, - strand  Genetic Position: Chr11, 43.14 cM
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+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 2 anatomical structures
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:  16 strains or lines available
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)

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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 6.12
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