Mafb^em1Staka
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mafb^em1Staka
• Name: MAF bZIP transcription factor B; endonuclease-mediated mutation 1, Satoru Takahashi
• MGI ID: MGI:6401825
• Synonyms: Mafb^MCTO, Mafb(P59L)
• Gene: Mafb Location: Chr2:160205623-160208985 bp, - strand Genetic Position: Chr2, 80.92 cM
• Alliance: Mafb^em1Staka page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CG to TT change at position 176-177 in the acidic transactivation domain, resulting in a proline to leucine substitution at amino acid 59. In addition, a C to T change at position 174 resulting in a synonymous substitution was included to increase the induction efficiency of the P59L mutation. The P59L mutation is identified in patients with multicentric carpotarsal osteolysis syndrome. (J:279108)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:279108 Tsunakawa Y, et al., Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients. Exp Anim. 2019 Feb 26;68(1):103-111
• All: 1 reference(s)