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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc6a8tm1.2Lbar
targeted mutation 1.2, Laura Baroncelli
MGI:5825019
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ot1
Slc6a8tm1.2Lbar/Y involves: 129 * 129S1/Sv * C57BL/6J * C57BL/6N MGI:5825026
ot2
Slc6a8tm1.2Lbar/Y involves: 129 * 129S1/Sv * C57BL/6N MGI:5825021


Genotype
MGI:5825026
ot1
Allelic
Composition
Slc6a8tm1.2Lbar/Y
Genetic
Background
involves: 129 * 129S1/Sv * C57BL/6J * 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
• in the object recognition test, no difference in short-term recognition memory is seen at P40, however the discrimination index at 24 hours is lower, indicating that capacity to recall a familiar object is impaired
• this memory deficit becomes more pronounced at P100 and eventually affects both short- and long-term memories at P180, such that mice show a memory deficit both at 1- and 24-hour interval
• this memory deficit becomes more pronounced at P100 and eventually affects both short- and long-term memories at P180, such that mice show a memory deficit both at 1- and 24-hour interval
• in the Morris water maze, mice show a spatial memory impairment in the probe test with mice spending less time in the quadrant where the platform was located during training and equally exploring the four quadrants of the maze, indicating they dont remember the location of the hidden platform
• progression of cognitive deficits is seen in the training phase of Morris water maze, with mice at P180
• mice at P180 show similar learning and memory in the Morris water maze as 1 year old wild-type mice
• in the Y maze spontaneous alternation, mice show a lower alternation rate than controls at P28, P40, P100 and P180
• mice at P180, but not P40, spend about 3-fold more time grooming than wild-type mice
• however, mice show normal anxiety responses at P40, P100, and P180 and normal behavior in the social preference test and the social novelty task
• mice show increase of fall latency form the rotarod at P40, P100 and P180

cellular
• number of Ki67-positive cells in the dentate gyrus is reduced about 30%, indicating reduced proliferation/neurogenesis

growth/size/body
• reduction in body weight at P60, P100, and P180

hematopoietic system
• increase in activated microglial cells in the brain with a parallel reduction of resting cells

homeostasis/metabolism
• creatine levels in the brain, muscle, heart and kidney are reduced in 1 month and 6 month old mice; this decrease is the same at P30 as in P180 mice, except in the muscle which show s greater reduction at P180 than at P30
• moderate increase in guanidinoacetic acid levels in the brain, muscle and heart at P30 and in the brain and muscle at P180

immune system
• increase in activated microglial cells in the brain with a parallel reduction of resting cells

nervous system
• number of Ki67-positive cells in the dentate gyrus is reduced about 30%, indicating reduced proliferation/neurogenesis
• increase in activated microglial cells in the brain with a parallel reduction of resting cells
• number of Ki67-positive cells in the dentate gyrus is reduced about 30%, indicating reduced proliferation/neurogenesis
• doublecortin-positive cells are reduced in the dentate gyrus, indicating reduced number of immature neurons at P180
• hippocampal volume is reduced at P180
• mice show loss of GABAergic synapses in the cerebral cortex
• mice show loss of GABAergic synapses in the cerebral cortex
• however, excitatory synapses are not affected

pigmentation
• accumulation of lipofuscin throughout the brain, especially in the dentate gyrus hippocampal region at P180

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cerebral creatine deficiency syndrome 1 DOID:0050800 OMIM:300352
J:238578




Genotype
MGI:5825021
ot2
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





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory