Mpz^em1Dama
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mpz^em1Dama
• Name: myelin protein zero; endonuclease-mediated mutation 1, Maurizio D'Antonio
• MGI ID: MGI:7481966
• Synonyms: Mpz^D61N
• Gene: Mpz Location: Chr1:170978282-170988699 bp, + strand Genetic Position: Chr1, 79.05 cM
• Alliance: Mpz^em1Dama page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 181 resulting in an aspartate to asparagine substitution at amino acid 61 (p.D61N). In addition, a silent A to G change at position 168 and a silent A to T conversion at position 177 were introduced to prevent gRNA binding and recleavage and to eliminate a Ddel restriction enzyme site, respectively. This mutation is predicted to generate a new N-glycosylation site and causes a severe early-onset form of Charcot-Marie-Tooth type IB neuropathy in humans. (J:335549)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Mpz Mutation: 28 strains or lines available

References

• Original: J:335549 Veneri FA, et al., A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism. Hum Mol Genet. 2022 Dec 16;31(24):4255-4274
• All: 1 reference(s)