Rnf146^tm1.1Rtpl
Targeted Allele Detail

Summary

• Symbol: Rnf146^tm1.1Rtpl
• Name: ring finger protein 146; targeted mutation 1.1, Robert Rottapel
• MGI ID: MGI:6150887
• Synonyms: Rnf146^fl
• Gene: Rnf146 Location: Chr10:29220172-29238438 bp, - strand Genetic Position: Chr10, 16.6 cM, cytoband A4
• Alliance: Rnf146^tm1.1Rtpl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243612
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into intron 3. A second loxP site was inserted into the 3' UTR of exon 4. Flp-mediated recombination removed the FRT-flanked selection cassette inserted into the 3' UTR. (J:243612)

Disease models

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

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 Rnf146 Mutation: 20 strains or lines available

Notes

Mice homozygous for the Rnf146^tm1.1Rtpl allele and hemizygous for the Tg(Sp7-tTA,tetO-EGFP/cre)1Amc transgene exhibit a Cleidocranial dysplasia (CCD)-like syndrome J:244583).

Phenotypic Similarity to Human Syndrome: cleidocranial dysplasia (DOID:13994).

References

• Original: J:243612 Matsumoto Y, et al., RANKL coordinates multiple osteoclastogenic pathways by regulating expression of ubiquitin ligase RNF146. J Clin Invest. 2017 Apr 03;127(4):1303-1315
• All: 2 reference(s)