Tnfrsf11a^tm1.1Sral
Targeted Allele Detail

Summary

• Symbol: Tnfrsf11a^tm1.1Sral
• Name: tumor necrosis factor receptor superfamily, member 11a, NFKB activator; targeted mutation 1.1, Stuart H Ralston
• MGI ID: MGI:7427368
• Synonyms: Tnfrsf11a^75dup27
• Gene: Tnfrsf11a Location: Chr1:105708443-105775709 bp, + strand Genetic Position: Chr1, 49.7 cM
• Alliance: Tnfrsf11a^tm1.1Sral page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:312215
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: Exon 1 was replaced with an exon 1 containing a 27 bp duplication (9 amino acid duplication of ALLLLCALL) in the signal peptide followed by a floxed neomycin cassette. The neomycin cassette was removed via flp-mediated recombination. This duplication has been identified in patients with early onset familial Pagets disease of bone. (J:312215)

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Tnfrsf11a Mutation: 42 strains or lines available

References

• Original: J:312215 Alonso N, et al., Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice. J Bone Miner Res. 2021 Jul;36(7):1376-1386
• All: 1 reference(s)