Mtmr2^tm1Ueli
Targeted Allele Detail

Summary

• Symbol: Mtmr2^tm1Ueli
• Name: myotubularin related protein 2; targeted mutation 1, Ueli Suter
• MGI ID: MGI:3612427
• Synonyms: Mtmr2 m
• Gene: Mtmr2 Location: Chr9:13659706-13717777 bp, + strand Genetic Position: Chr9, 3.44 cM, cytoband A1
• Alliance: Mtmr2^tm1Ueli page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:104120
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A stop codon was introduced into exon 9 at the codon for amino acid 276 in exon 13, within the phosphatase domain. An IRES-lacZ-tk-neo cassette replaced the region downstream of this mutation. Immunohistochemical analysis on nerve sections of mutants suggested that a truncated protein was still expressed by peripheral nerves. (J:104120)

Disease models

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 Mtmr2 Mutation: 38 strains or lines available

References

• Original: J:104120 Bonneick S, et al., An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2005 Dec 1;14(23):3685-95
• All: 2 reference(s)