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Phenotypes Associated with This Genotype
Genotype
MGI:3721064
Allelic
Composition
Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn3tm1Tjj mutation (0 available); any Clcn3 mutation (119 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although mortality rates are greater than in wild-type mice, mice survive to one year

nervous system
• mice older than 3 months have a reduced brain size
• at P21, activated microglia are detected in CA1 with a progression to CA3 and other regions of the hippocampus
• at P12, pyramidal cell loss occurs in CA1 and progresses over the following weeks
• the near complete loss of the hippocampus is due to hippocampus degeneration that begins at 2 weeks of age
• the hippocampus is nearly completely replaced by a large cavity contiguous with the ventricular system
• retinal degeneration leads to a complete loss of photoreceptors by P28
• between P12 and P28, retinal degeneration affects both the photoreceptor inner and outer segment
• at P12, the photoreceptor outer segment is disorganized
• between P12 and P28, retinal degeneration affects both the photoreceptor inner and outer segment
• the acidity in synaptic vesicles is lower than in wild-type vesicles
• at P21, activated microglia are detected in CA1 with a progression to CA3 and other regions of the hippocampus
• short-term plasticity is reduced without impaired excitability or excitation-inhibition balance

behavior/neurological
• locomotion is increased when mice are placed in a new environment compared to wild-type mice whose activity decreases with time spent in the new environment
• when placed in a new environment, mice exhibit increased running in circles with intermittent short stops over long periods
• mice exhibit a tremor when first put on a rod
• initially, mice exhibit a tremor when first put on a rod and perform poorly on a rotarod test but improve with time
• when resting mice arch their backs
• basal levels of locomotion are increased relative to those in wild-type mice and is accompanied by reduced resting time
• when placed in a new environment, mice exhibit increased running in circles with intermittent short stops over long periods

vision/eye
• retinal degeneration leads to a complete loss of photoreceptors by P28
• between P12 and P28, retinal degeneration affects both the photoreceptor inner and outer segment
• at P12, the photoreceptor outer segment is disorganized
• between P12 and P28, retinal degeneration affects both the photoreceptor inner and outer segment
• retinal degeneration leads to a complete loss of photoreceptors by P28
• in electroretinograms performed as soon as mice opened their eyes, mice either lacked an electrical response or showed a small wave that was not followed by a detectable b wave

growth/size/body
• except for immediately after birth mice are smaller in appearance and weight

immune system
• at P21, activated microglia are detected in CA1 with a progression to CA3 and other regions of the hippocampus

renal/urinary system
N
• mice exhibit normal urine homeostasis

hematopoietic system
• at P21, activated microglia are detected in CA1 with a progression to CA3 and other regions of the hippocampus


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
04/16/2024
MGI 6.23
The Jackson Laboratory