Ogfrl1^em1Uek
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ogfrl1^em1Uek
• Name: opioid growth factor receptor-like 1; endonuclease-mediated mutation 1, Yasuyoshi Ueki
• MGI ID: MGI:7865460
• Synonyms: Ogfrl1^Del-c
• Gene: Ogfrl1 Location: Chr1:23405505-23422282 bp, - strand Genetic Position: Chr1, 9.57 cM, cytoband A5
• Alliance: Ogfrl1^em1Uek page

Mutation origin

• Strain of Origin: C57BL/6JN

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/cas9 mediated recombination introduced a single C deletion in exon 1 at position 75 and silent mutations to allow for ScaI digestion resulting in a frameshift mutation. The deletion of the C is homologous to a mutation found in human patients (J:361287)

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 Ogfrl1 Mutation: 24 strains or lines available

References

• Original: J:361287 Kittaka M, et al., Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families. JBMR Plus. 2024 Jun;8(6):ziae050
• All: 1 reference(s)