Ocrl^tm1Nbm
Targeted Allele Detail

Summary

• Symbol: Ocrl^tm1Nbm
• Name: OCRL, inositol polyphosphate-5-phosphatase; targeted mutation 1, Robert L Nussbaum
• MGI ID: MGI:2159611
• Synonyms: Ocrl1-, Ocrl1^neo
• Gene: Ocrl Location: ChrX:47001264-47054745 bp, + strand Genetic Position: ChrX, 25.43 cM
• Alliance: Ocrl^tm1Nbm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47884
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Null/knockout)
• 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)

Disease models

Expression

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Ocrl Mutation: 9 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: 6 reference(s)