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Ocrltm2Nbm
Targeted Allele Detail
Nomenclature
Symbol: Ocrltm2Nbm
Name: oculocerebrorenal syndrome of Lowe; targeted mutation 2, Robert L Nussbaum
MGI ID: MGI:2159678
Synonyms: Ocrl1-, Ocrl1polyA-
Gene: Ocrl  Location: ChrX:47912387-47965868 bp, + strand  Genetic Position: ChrX, 25.43 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:47884
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA truncated PGK-neomycin resistance cassette lacking its polyadenylation sequence replaced exon 20 and half of exons 19 and 21, and placed an in frame stop codon into exon 19. Western blot analysis did not detect protein in any organs from hemizygous mutant male mice. (J:47884)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 7 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:  6 strains or lines available
References
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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory