Mafb^tm1.1Mardu
Targeted Allele Detail

Summary

• Symbol: Mafb^tm1.1Mardu
• Name: MAF bZIP transcription factor B; targeted mutation 1.1, Martine Dunnwald
• MGI ID: MGI:7256734
• Synonyms: Mafb^H131Q
• Gene: Mafb Location: Chr2:160205623-160208985 bp, - strand Genetic Position: Chr2, 80.92 cM
• Alliance: Mafb^tm1.1Mardu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:311539
• Parent Cell Line: JM8 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Histidine codon 131 (CAC) in the single exon was changed to glutamine (CAG) (p.H131Q) and an FRT site flanked neomycin resistance gene cassette and a loxP site were inserted upstream and second loxP site downstream. The mutation is associated with orofacial clefts (OFCs) in humans. The neo cassette was removed through subsequent flp-mediated recombination. (J:311539)

Expression

In Mice Carrying this Mutation:

4 assay results

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:311539 Paul BJ, et al., The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse. Dev Dyn. 2021 Oct;250(10):1463-1476
• All: 1 reference(s)