Mouse Genome Informatics
hm
    Slc12a6tm1Dlp/Slc12a6tm1Dlp
involves: 129 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• 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
N
• homozygotes display normal brain (corpus callosum) and spinal cord morphology (J:79870)
• 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 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
• homozygotes display peripheral nerve fiber degeneration, as demonstrated in sections of the sciatic nerve

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

Mouse Models of Human Disease
OMIM IDRef(s)
Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN 218000 J:79870