Gphn^tm1Jrs
Targeted Allele Detail

Summary

• Symbol: Gphn^tm1Jrs
• Name: gephyrin; targeted mutation 1, Joshua R Sanes
• MGI ID: MGI:2182559
• Synonyms: geph-
• Gene: Gphn Location: Chr12:78273153-78731546 bp, + strand Genetic Position: Chr12, 35.51 cM, cytoband D2
• Alliance: Gphn^tm1Jrs page

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 details: A 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)

Expression

In Mice Carrying this Mutation:	16 assay results
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: 2 strains available Cell Lines: 0 lines available
• Carrying any Gphn Mutation: 89 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)