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Ophn1tm1Bill
Targeted Allele Detail
Summary
Symbol: Ophn1tm1Bill
Name: oligophrenin 1; targeted mutation 1, Pierre Billuart
MGI ID: MGI:3757609
Gene: Ophn1  Location: ChrX:97597883-97934631 bp, - strand  Genetic Position: ChrX, 42.94 cM, cytoband C2
Alliance: Ophn1tm1Bill page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:124943
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details: A loxP flanked hygromycin resistance cassette was inserted into exon 9 of this X chromosome gene. Chimeric male mice were mated with Cre-recombinase transgenic female mice to remove the selection cassette. The remaining loxP site caused a frameshift mutation and a premature STOP codon. Hemizygous males expressed no protein as determined by Western blots on brain and liver extracts. (J:124943)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 3 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 Ophn1 Mutation:  12 strains or lines available
References
Original:  J:124943 Khelfaoui M, et al., Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. J Neurosci. 2007 Aug 29;27(35):9439-50
All:  14 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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Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory