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Phenotypes Associated with This Genotype
Genotype
MGI:5825021
Allelic
Composition
Slc6a8tm1.2Lbar/Y
Genetic
Background
involves: 129 * 129S1/Sv * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a8tm1.2Lbar mutation (0 available); any Slc6a8 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit memory deficits in the object recognition test, with mice showing a lower discrimination index for the novel object compared to controls
• spatial learning and memory are impaired in the Morris water maze, with the mean distance covered to locate the submerged platform on the last 3 days of training longer than in controls, and mice showing no preference for the target quadrant in the probe trial, indicating that mice do not remember the location of the hidden platform
• spatial learning and memory are impaired in the Morris water maze, with the mean distance covered to locate the submerged platform on the last 3 days of training longer than in controls, and mice showing no preference for the target quadrant in the probe trial, indicating that mice do not remember the location of the hidden platform
• spatial working memory is impaired in the Y maze, with mice showing a smaller rate of spontaneous alternation compared to controls
• however, the number of entries in the single arms of the maze or total number of arm entries is normal, indicating normal exploratory behavior
• mice are slower swimmers than controls
• spontaneous locomotor activity is reduced in the home cage, with mice showing decreased horizontal activity during the night period
• however, mice exhibit normal behavior in the open field arena, with no differences in motion speed or total distance moved, or in anxiety-related behavior

renal/urinary system
• decrease in urine creatine levels and creatine/creatinine ratio in the urine

growth/size/body
• reduction in body weight at 2 months of age

homeostasis/metabolism
• decrease in creatine levels in the brain, muscle, heart, and kidney
• decrease in urine creatine levels and creatine/creatinine ratio in the urine

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cerebral creatine deficiency syndrome 1 DOID:0050800 OMIM:300352
J:232606


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
05/07/2024
MGI 6.23
The Jackson Laboratory