Mtnr1a^em1Stko
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mtnr1a^em1Stko
• Name: melatonin receptor 1A; endonuclease-mediated mutation 1, Stavroula Kousteni
• MGI ID: MGI:8245356
• Synonyms: Mtnr1a^c.193+1GtoT
• Gene: Mtnr1a Location: Chr8:45522174-45541543 bp, + strand Genetic Position: Chr8, 24.95 cM
• Alliance: Mtnr1a^em1Stko page

Mutation origin

• Strain of Origin: B6CBAF1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a substitution of the G nucleotide at c.193+1 by a T (c.193+1G>T) in the donor splice site conserved between mice and humans (c.184+1G>T in human). This is a variant identified in a family with idiopathic osteoporosis. (J:370727)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Mtnr1a Mutation: 24 strains or lines available

References

• Original: J:370727 Bisikirska B, et al., Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis. Sci Transl Med. 2024 Oct 16;16(769):eadj0085
• All: 1 reference(s)