Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Mtmr2tm1.1Abol
Name:	myotubularin related protein 2; targeted mutation 1, Alessandra Bolino
MGI ID:	MGI:3513454
Synonyms:	Mtmr2-, Mtmr2-nullneo
Gene:	Mtmr2  Location: Chr9:13659706-13717777 bp, + strand  Genetic Position: Chr9, 3.44 cM, cytoband A1
Alliance:	Mtmr2tm1.1Abol page

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

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: The floxed region containing exon 4 was excised from Mtmr2tm1Abol 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

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)