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Phenotypes Associated with This Genotype
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a6tm1Dlp mutation (0 available); any Slc12a6 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygotes exhibit significantly reduced exploratory activity in open field chambers relative to wild-type and heterozygous mice, as measured by the total distance traveled and number of instances of rearing at the periphery within the first 5 min
• however, no differences are observed in the time spent at the periphery, suggesting absence of anxiety
• when suspended from the tail, young homozygotes cross their hindlimbs instead of extending them
• young homozygotes perform poorly on the rotorod test, a wire-hanging test, and a beam-task test relative to age-matched wild-type littermates, with no obvious decline in performance between 1 and 4 months of age
• starting at 2 weeks of age, homozygotes exhibit disorganized limb movements
• in an open field chamber, homozygotes drag their hindlimbs and slip leaving wide tracks in the bedding, whereas wild-type mice move freely without disrupting the corncob substrate
• starting at 2 weeks of age, homozygotes display weakness of the hindlimbs
• starting at 2 weeks of age, homozygotes show a low posture on a flat surface, due to weakness of the hindlimbs and abnormal limb movements

nervous system
• homozygotes display normal brain (corpus callosum) and spinal cord morphology
• homozygotes exhibit axonal swelling in the sciatic nerve
• homozygotes exhibit axons with a thinner myelin layer in the sciatic nerve
• unlike wild-type and heterozygous mice, homozygotes display many thinly myelinated axons and signs of myelin deposits in the sciatic nerve
• homozygotes display peripheral nerve fiber degeneration, as demonstrated in sections of the sciatic nerve
• homozygotes display hypomyelination, decompaction of myelin, and demyelination in the sciatic nerve
• homozygotes display a significant reduction in PPI of the startle response at different prepulse intensities relative to wild-type and heterozygous littermates, indicating a sensorimotor gating deficit
• however, no differences are observed in acoustic startle responses at different intensities, suggesting that hearing is normal

reproductive system
• attempts to mate homozygous mutant males and females have been unsuccessful

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
agenesis of the corpus callosum with peripheral neuropathy DOID:0090003 OMIM:218000

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory