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Phenotypes Associated with This Genotype
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a6em1Dlp mutation (0 available); any Slc12a6 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• mice exhibit a shorter latency to fall on the rotarod, indicating a locomotor deficit
• in the balance beam task, mice exhibit a tendency to stall, indicated by the delayed time to reach the platform, and experience multiple hindlimb paw slips during crossing
• on a narrower 6 mm square beam, mice show greater difficulty crossing, with intense dragging of hindlimbs and inability to complete the task by multiple mice
• in the wire hang grip test, mice clasp to the wire and thrash to remain on the wire, commonly using their hindlimbs and tail to secure themselves on the wire unlike controls that mainly use the forelimbs
• however, no differences in weight or grip strength is seen in the force grip assay

nervous system
• sections of sciatic nerves show breakage of the myelin sheaths enwrapping the exon
• myelin sheath degeneration is specific to fibers showing double myelinating Schwann cells, suggesting that Schwann cells attempt remyelination but do not succeed
• mice exhibit motor nerve conduction defects, with motor amplitudes of caudal tail nerve responses to 20 or 25 mA stimuli decreased and increased latency to response of motor conduction in dorsal caudal tail nerves
• mice show a trend toward decreased peripheral sensory nerve function, with a trend toward decreased amplitude for the sciatic nerve and the sensory nerve latencies to response of conduction tend to be higher

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
motor peripheral neuropathy DOID:2477 J:259728

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 6.13
The Jackson Laboratory