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| Nomenclature |
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Symbol:
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Ophn1tm1Bill
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Name:
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oligophrenin 1;
targeted mutation 1, Pierre Billuart
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MGI ID: |
MGI:3757609 |
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Gene:
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Ophn1
Location:
ChrX:98554277-98891025 bp, - strand
Genetic Position: ChrX,
42.94 cM, cytoband C2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:124943
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ophn1 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
