Phenotypes Associated with This Genotype

Genotype
MGI:6157847

• Allelic Composition: Slc12a6^em1Dlp/Slc12a6^em1Dlp
• Genetic Background: involves: C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

impaired coordination ( J:259728 )

• 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

demyelination ( J:259728 )

• 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

abnormal nerve conduction ( J:259728 )

• 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