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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc1a1tm1Wst
targeted mutation 1, Wilheim Stoffel
MGI:2655190
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc1a1tm1Wst/Slc1a1tm1Wst B6.129-Slc1a1tm1Wst MGI:4417919
hm2
Slc1a1tm1Wst/Slc1a1tm1Wst involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2655192
cx3
Slc1a1tm1Wst/Slc1a1tm1Wst
Slc1a3tm1Wst/Slc1a3tm1Wst
involves: 129S1/Sv * 129X1/SvJ MGI:3056592


Genotype
MGI:4417919
hm1
Allelic
Composition
Slc1a1tm1Wst/Slc1a1tm1Wst
Genetic
Background
B6.129-Slc1a1tm1Wst
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc1a1tm1Wst mutation (0 available); any Slc1a1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• despite retinal ganglion cell loss and glaucomatous-like changes, mice exhibit normal intraocular pressure
• after 8 weeks, mice exhibit loss of retinal ganglion cells (RGCs) associated with oxidative stress unlike wild-type mice

homeostasis/metabolism
• in retinal ganglion cells treated with hydrogen peroxide

cellular
• retinal ganglion cells exhibit increased susceptibility to hydrogen peroxide compared with similarly treated wild-type cells

nervous system
• after 8 weeks, mice exhibit loss of retinal ganglion cells (RGCs) associated with oxidative stress unlike wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
low tension glaucoma DOID:13544 OMIM:606657
J:124191




Genotype
MGI:2655192
hm2
Allelic
Composition
Slc1a1tm1Wst/Slc1a1tm1Wst
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc1a1tm1Wst mutation (0 available); any Slc1a1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• there were no obvious neurological disorders in the first 12 months of life
• learning was not affected as indicated by a water maze test
• motor coordination was normal
• only about half normal level of motor activity
• shorter bursts of activity and longer stretches of inactivity

homeostasis/metabolism
• mice develop dicarboxylic aminoaciduria
• although plasma amino acid levels are normal, excretion of glutamate is increased 1400X and excretion of aspartate is increased 10X

renal/urinary system
• mice develop dicarboxylic aminoaciduria
• although plasma amino acid levels are normal, excretion of glutamate is increased 1400X and excretion of aspartate is increased 10X

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dicarboxylic aminoaciduria DOID:0060650 OMIM:222730
J:41613




Genotype
MGI:3056592
cx3
Allelic
Composition
Slc1a1tm1Wst/Slc1a1tm1Wst
Slc1a3tm1Wst/Slc1a3tm1Wst
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc1a1tm1Wst mutation (0 available); any Slc1a1 mutation (2 available)
Slc1a3tm1Wst mutation (0 available); any Slc1a3 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• faster rise times and slower decay was seen for excitatory post synaptic currents in patch clamp recordings made on Purkinje cells of cerebellar slices





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
07/09/2019
MGI 6.14
The Jackson Laboratory