Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Mafbem1Hts
Name:	MAF bZIP transcription factor B; endonuclease-mediated mutation 1, Hiroyasu Tsukaguchi
MGI ID:	MGI:6471912
Synonyms:	MafbL239P
Gene:	Mafb  Location: Chr2:160205623-160208985 bp, - strand  Genetic Position: Chr2, 80.92 cM
Alliance:	Mafbem1Hts page

Strain of Origin:

C57BL/6J

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	18 strains or lines available

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)