Nr2f1^em1Ics
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nr2f1^em1Ics
• Name: nuclear receptor subfamily 2, group F, member 1; endonuclease-mediated mutation 1, Mouse Clinical Institute
• MGI ID: MGI:8253350
• Synonyms: Nr2f1^E397*
• Gene: Nr2f1 Location: Chr13:78337090-78346954 bp, - strand Genetic Position: Chr13, 41.38 cM
• Alliance: Nr2f1^em1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:373120
• Parent Cell Line: S3 (ES Cell)
• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a glutamic acid 397 (GAA) to TGA stop codon change (c.1189-1190delGAinsTG, p.E397*) in exon 3. A silent mutation also introduced an NdeI restriction site. This is a variant in the ligand-binding domain identified in patients with Bosch-Boonstra-Schaaf optic atrophy syndrome. (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)