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Phenotypes Associated with This Genotype
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mtmr2tm1.1Abol mutation (0 available); any Mtmr2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• significant number of null mice are not born (14% versus the expected 25% born were null)

• occasionally clenched paws when suspended by the tail
• occasionally showed mild tremor
• significantly wider base and longer stride at 6 months of age suggesting a neuromuscular abnormality

• males weighed less than wild-type at all ages

• occasionally had widely placed hindpaws

reproductive system
• at 3 weeks of age, some seminiferous tubules showed premature germ cell loss from the epithelium and at 4 months of age, elongating/elongate spermatids and spermatocytes shed from the epithelium and entered the lumen of tubules in mutant testes

nervous system
• myelin foldings and recurrent loops were seen in myelin-forming Schwann cells of the sciatic nerve
• at 6 months of age, occasional degenerating axons were seen in sciatic nerve
• myelin outfolding (appeared as comma shaped extension of myelin and axoplasm), recurrent loops (appeared as one to five satellite myelinated axons around a larger myelinated axon), and myelin protruding into the axon were seen in sciatic nerves, quadriceps and saphenous nerves, predominantly at paranodal myelin
• number of fibers containing myelin outfoldings and loops increased progressively in sciatic nerves with age (from 1-6 months) as did the complexity of myelin outfoldings
• reduced nerve conduction velocities (30.8 m/s vs. 38.7 m/s in wild-type) and prolonged F-wave latencies

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 4B1 DOID:0110191 OMIM:601382

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.10
The Jackson Laboratory