Mtmr2^tm1.1Abol
Targeted Allele Detail

Summary

• Symbol: Mtmr2^tm1.1Abol
• Name: myotubularin related protein 2; targeted mutation 1, Alessandra Bolino
• MGI ID: MGI:3513454
• Synonyms: Mtmr2^-, Mtmr2-null^neo
• Gene: Mtmr2 Location: Chr9:13659706-13717777 bp, + strand Genetic Position: Chr9, 3.44 cM, cytoband A1
• Alliance: Mtmr2^tm1.1Abol page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94373
• Parent Cell Line: TBV2 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The floxed region containing exon 4 was excised from Mtmr2^tm1Abol by crossing with CMV-Cre transgenic mice, causing a frameshift from either ATG start site of translation (in exon 1 or exon 3). No mRNAs containing exon 4 or 3' exons could be detected by RT-PCR from tail, brain, muscle, and sciatic nerve from mutants. Western blot analysis showed that protein was absent from brain lysates from mutant animals. (J:94373)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Mtmr2 Mutation: 38 strains or lines available

References

• Original: J:94373 Bolino A, et al., Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol. 2004 Nov 22;167(4):711-21
• All: 6 reference(s)