Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:124943
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129S2/SvPas

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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 Ophn1 Mutation:	10 strains or lines available

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:	13 reference(s)