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Phenotypes Associated with This Genotype
involves: 129S6/SvEvTac * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Borcs7Q87X mutation (0 available); any Borcs7 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• mice show only mild changes in the Morris water maze, with longer latencies to the escape platform on the 3rd day of testing
• mice show a small, but significant, reduction in the startle amplitudes at 6 weeks of age, but the difference is no longer seen in subsequent tests
• hind limb clasping
• hind limb ataxia emerges during the adolescent period
• in the accelerating roatarod, mice show reduced latency to fall at 5 and 8 weeks of age
• in the wire-hang task, mice show reduced latency to fall and decreased overall coordination score at 4 and 8 weeks of age
• altered gait, with progressive severity as mice age
• mice show a reduction in rearing at 8 weeks, but not 5 weeks, of age, consistent with loss of hind limb strength
• mice are hyperactive in a novel environment at 5 weeks of age, showing increased general activity in the beginning intervals of test
• however, by the second test at 8 weeks of age, no differences are seen

• modest, but significant, decrease in the number of lysosomes in axons of cortical neurons

nervous system
• motor neurons within the ventral horn and sciatic nerve show Luxol Fast Blue stained spherical bodies indicating dystrophic axons
• spheroids show dense accumulations of organelles in various stages of degeneration
• swollen axons are pronounced and numerous in the spinal cord, affecting both myelinated and unmyelinated fibers
• swollen axons have tubulovesicular elements forming an anastomosing, curvilinear network of delicate membrane structures with lumens indicative of dystrophic axons
• neurons show decreased anterograde velocity of LAMP1-GFP-labeled lysosomes compared to controls
• neurons show reduction in both anterograde and retrograde lysosomal run length

reproductive system
• males exhibit decreased fertility by 15 weeks of age due to progressive loss of motor coordination
• however, sperm are able to fertilize oocytes

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 6.21
The Jackson Laboratory