Tenm3^em1Geof
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tenm3^em1Geof
• Name: teneurin transmembrane protein 3; endonuclease-mediated mutation 1, George Feldman
• MGI ID: MGI:8259778
• Gene: Tenm3 Location: Chr8:48680717-49296986 bp, - strand Genetic Position: Chr8, 27.02 cM, cytoband B2
• Alliance: Tenm3^em1Geof page

Mutation origin

• Strain of Origin: (C57BL/6J x C3H/HeJ)F2

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready, Humanized sequence, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into intron 30 and a lox2272 site a modified copy of exon 31 in reverse orientation, a second loxP site and a second lox2272 site were inserted into intron 31 using zinc finger nucleases (ZFNs). The modification entails changing glutamine codon 2665 (CAG) to proline (CCG) (p.Q2665P), the equivalent of the same human mutation found in some individuals presenting with developmental dysplasia of the hip (DDH). This allele expresses wildtype protein and only after Cre-mediated inversion of the modified exon and deletion of the wildtype exon will it express the mutant protein. The mutated residue is close to the teneurin c terminal associated peptide (TCAP) cleavage site and may interfere with cleavage. (J:374326)

Expression

In Structures Affected by this Mutation:

1 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 Tenm3 Mutation: 223 strains or lines available

References

• Original: J:374326 Feldman G, et al., Novel mutation in Teneurin 3 found to co-segregate in all affecteds in a multi-generation family with developmental dysplasia of the hip. J Orthop Res. 2019 Jan;37(1):171-180
• All: 1 reference(s)