Map1b^em1Mgx
Endonuclease-mediated Allele Detail

Summary

• Symbol: Map1b^em1Mgx
• Name: microtubule-associated protein 1B; endonuclease-mediated mutation 1, Min-Xin Guan
• MGI ID: MGI:8377100
• Gene: Map1b Location: Chr13:99557954-99653048 bp, - strand Genetic Position: Chr13, 52.9 cM
• Alliance: Map1b^em1Mgx page

Mutation origin

• Strain of Origin: CBA/CaJ

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-Cas9 mediated recombination targeting exon 4 generated a 14 bp deletion (CTGCCCGCCATAAA) that produced a frame-shift mutation causing a premature stop codon (p.Leu139*) and resulted in a truncated protein with 133 amino acids. Western blot analysis shows a 40% decrease and absence of protein in the brain of heterozygotes and homozygotes at P7, respectively. (J:388508)

Disease models

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 Map1b Mutation: 85 strains or lines available

References

• Original: J:388508 Cui L, et al., Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss. JCI Insight. 2020 Dec 3;5(23)
• All: 1 reference(s)