Phenotypes associated with this allele

• Allele Symbol: Slc1a1^tm1Wst
• Allele Name: targeted mutation 1, Wilheim Stoffel
• Allele ID: MGI:2655190
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc1a1^tm1Wst/Slc1a1^tm1Wst	B6.129-Slc1a1^tm1Wst	MGI:4417919
hm2	Slc1a1^tm1Wst/Slc1a1^tm1Wst	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2655192
cx3	Slc1a1^tm1Wst/Slc1a1^tm1Wst Slc1a3^tm1Wst/Slc1a3^tm1Wst	involves: 129S1/Sv * 129X1/SvJ	MGI:3056592

Genotype
MGI:4417919

hm1

• Allelic Composition: Slc1a1^tm1Wst/Slc1a1^tm1Wst
• Genetic Background: B6.129-Slc1a1^tm1Wst

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

vision/eye phenotype ( J:124191 )

N • despite retinal ganglion cell loss and glaucomatous-like changes, mice exhibit normal intraocular pressure

decreased retina ganglion cell number ( J:124191 )

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

optic nerve degeneration ( J:124191 )

homeostasis/metabolism

increased lactate dehydrogenase level ( J:124191 )

• in retinal ganglion cells treated with hydrogen peroxide

cellular

increased cellular sensitivity to hydrogen peroxide ( J:124191 )

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

nervous system

decreased retina ganglion cell number ( J:124191 )

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

optic nerve degeneration ( J:124191 )

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

Genotype
MGI:2655192

hm2

• Allelic Composition: Slc1a1^tm1Wst/Slc1a1^tm1Wst
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

behavior/neurological

behavior/neurological phenotype ( J:41613 )

N • there were no obvious neurological disorders in the first 12 months of life

N • learning was not affected as indicated by a water maze test

N • motor coordination was normal

decreased locomotor activity ( J:41613 )

• only about half normal level of motor activity

• shorter bursts of activity and longer stretches of inactivity

homeostasis/metabolism

dicarboxylic aciduria ( J:41613 )

• 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

dicarboxylic aciduria ( J:41613 )

• 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: Slc1a1^tm1Wst/Slc1a1^tm1Wst; Slc1a3^tm1Wst/Slc1a3^tm1Wst
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

nervous system

abnormal nerve conduction ( J:93201 )

• faster rise times and slower decay was seen for excitatory post synaptic currents in patch clamp recordings made on Purkinje cells of cerebellar slices