Mafb^em1Hts
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mafb^em1Hts
• Name: MAF bZIP transcription factor B; endonuclease-mediated mutation 1, Hiroyasu Tsukaguchi
• MGI ID: MGI:6471912
• Synonyms: Mafb^L239P
• Gene: Mafb Location: Chr2:160205623-160208985 bp, - strand Genetic Position: Chr2, 80.92 cM
• Alliance: Mafb^em1Hts 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 T to C point mutation at position 716 (c.716T>C) resulting in a leucine to proline change at amino acid 239 (p.Leu239Pro) using gRNA 5'-TCCGCCGCTTCTGCTTCAGG-3'. Focal segmental glomerulosclerosis affected individuals harbor this rare heterozygous substitution. (J:296168)

Expression

In Structures Affected by this Mutation:

1 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 Mafb Mutation: 20 strains or lines available

References

• Original: J:296168 Sato Y, et al., A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. Kidney Int. 2018 Aug;94(2):396-407
• All: 2 reference(s)