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Targeted Allele Detail
Symbol: Ocrltm1Nbm
Name: oculocerebrorenal syndrome of Lowe; targeted mutation 1, Robert L Nussbaum
MGI ID: MGI:2159611
Synonyms: Ocrl1-, Ocrl1neo
Gene: Ocrl  Location: ChrX:47912387-47965868 bp, + strand  Genetic Position: ChrX, 25.43 cM
Germline Transmission:  Earliest citation of germline transmission: J:47884
Parent Cell Line:  CCE/EK.CCE (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA PGK-neomycin resistance cassette replaced exon 20 and half of exons 19 and 21, and an in frame stop codon was introduced into exon 19. RNase protection analysis revealed a protected fragment in brain and kidney of wild-type mice that was absent in hemizygous mutant male mice. (J:47884)
View phenotypes for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 2 assay results
Find Mice (IMSR)
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 Ocrl Mutation:  1 strain or line available
Original:  J:47884 Janne PA, et al., Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest. 1998 May 15;101(10):2042-53
All:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory