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Chrna7tm2Bay
Targeted Allele Detail
Summary
Symbol: Chrna7tm2Bay
Name: cholinergic receptor, nicotinic, alpha polypeptide 7; targeted mutation 2, Baylor College of Medicine
MGI ID: MGI:2155604
Synonyms: L250T
Gene: Chrna7  Location: Chr7:62748440-62862274 bp, - strand  Genetic Position: Chr7, 34.47 cM
Alliance: Chrna7tm2Bay page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:61536
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
 
Mutation detailsPoint mutations were introduced into exon 8 that altered codon 250 from one encoding leucine to one encoding threonine. Additional mutations in intron 7 created a new restriction site. A loxP-flanked neomycin and thymidine kinase selection cassette was also inserted in intron 9, but was subsequently removed by Cre mediated recombination in ES cells prior to the production of chimeric mice. (J:61536)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Chrna7 Mutation:  50 strains or lines available
References
Original:  J:61536 Orr-Urtreger A, et al., Mice homozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor show increased neuronal apoptosis and die within 1 day of birth. J Neurochem. 2000 May;74(5):2154-66
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory