Nfix^em3H
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nfix^em3H
• Name: nuclear factor I/X; endonuclease-mediated mutation 3, Harwell
• MGI ID: MGI:7567691
• Synonyms: Nfix^Del2, Nfix^em1Rvt
• Gene: Nfix Location: Chr8:85431341-85527086 bp, - strand Genetic Position: Chr8, 41.02 cM, cytoband C1-C2
• Alliance: Nfix^em3H page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: RISPR/Cas9 technology generated a frameshift 2-bp deletion in exon 7 from position +49,580 to +49,581 relative to the translation start site. Exon 7 is the most commonly mutated exon in Marshall-Smith Syndrome patients. The frameshift introduced a premature stop codon and led to the production of intermediate levels of mutant protein. MEFs express the mutant long isoform (315 bp) and the wild-type short isoform lacking exon 7 (194 bp). (J:343087)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Nfix Mutation: 63 strains or lines available

References

• Original: J:343087 Kooblall KG, et al., A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome. JBMR Plus. 2023 Jun;7(6):e10739
• All: 2 reference(s)