|
|
| Nomenclature |
|
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
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:47884
|
|
Parent Cell Line:
| CCE/EK.CCE (ES Cell) |
|
Strain of Origin:
|
129S/SvEv-Gpi1c
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: A 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)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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 |
|
| 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: |
4 reference(s)
|
|
Analysis Tools
