Ophn1^tm1Bill
Targeted Allele Detail

Summary

• Symbol: Ophn1^tm1Bill
• 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: Ophn1^tm1Bill 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)

Disease models

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)