Nr2f1^em1Cpsc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nr2f1^em1Cpsc
• Name: nuclear receptor subfamily 2, group F, member 1; endonuclease-mediated mutation 1, Christian P Schaaf
• MGI ID: MGI:8253349
• Synonyms: Nr2f1^R139L
• Gene: Nr2f1 Location: Chr13:78337090-78346954 bp, - strand Genetic Position: Chr13, 41.38 cM
• Alliance: Nr2f1^em1Cpsc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a CCAATACTGCCGC to TCAGTATTGTCTC change in which the CGC to CTC codon change at the end results in an arginine to leucine substitution at amino acid 139 (p.R139L) at the end of the first exon. This is a variant in the DNA-binding domain identified in patients with Bosch-Boonstra-Schaaf optic atrophy syndrome. Patients with variants in the DNA-binding domain show more severe clinical phenotype than those with ligand-binding domain variants. (J:373120)

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
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 Nr2f1 Mutation: 25 strains or lines available

References

• Original: J:373120 Maass JG, et al., Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior. Dis Model Mech. 2025 Oct 1;18(10)
• All: 1 reference(s)