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Gphntm1Jrs
Targeted Allele Detail
Nomenclature
Symbol: Gphntm1Jrs
Name: gephyrin; targeted mutation 1, Joshua R Sanes
MGI ID: MGI:2182559
Synonyms: geph-
Gene: Gphn  Location: Chr12:78226379-78684772 bp, + strand  Genetic Position: Chr12, 35.51 cM, cytoband D2
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77775
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 detailsA neomycin selection cassette replaced exon 1 and upstream regulatory sequence. Northern blot analysis of total RNA obtained from brain tissue showed an absence of transcript in homozygous mutant mice. A lack of encoded protein was determined via Western blot analysis of protein extracts from the brain. Protein was undetected by staining of spinal cord sections from homozygous mutant mice. (J:77775)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 2 assay results
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Gphn Mutation:  37 strains or lines available
References
Original:  J:77775 Feng G, et al., Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity. Science. 1998 Nov 13;282(5392):1321-4
All:  10 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
02/16/2021
MGI 6.16
The Jackson Laboratory