Mpz^tm3.1Wra
Targeted Allele Detail

Summary

• Symbol: Mpz^tm3.1Wra
• Name: myelin protein zero; targeted mutation 3.1, San Raffaele Scientific Institute
• MGI ID: MGI:5909317
• Synonyms: Mpz^tm1.1Mesh, MpzTM^R98CLWLF1, R98C
• Gene: Mpz Location: Chr1:170978282-170988699 bp, + strand Genetic Position: Chr1, 79.05 cM
• Alliance: Mpz^tm3.1Wra page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:241742
• Parent Cell Line: TBV2 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: A single point mutation (C>T) was engineered in exon 3, changing arginine codon 98 into a cysteine codon (p.Arg98Cys). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 3 was removed through cre-mediated recombination. This mutation emulates a mutation found in some human early onset Charcot-Marie-Tooth disease type 1B (CMT1B) patients. (J:241742)

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 Mpz Mutation: 28 strains or lines available

References

• Original: J:241742 Saporta MA, et al., MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain. 2012 Jul;135(Pt 7):2032-47
• All: 3 reference(s)