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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc17a5tm1Lex
targeted mutation 1, Lexicon Genetics
MGI:3529082
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc17a5tm1Lex/Slc17a5tm1Lex involves: 129S5/SvEvBrd * C57BL/6 MGI:4440830
hm2
Slc17a5tm1Lex/Slc17a5tm1Lex involves: 129S5/SvEvBrd * C57BL/6J MGI:3609722
ht3
Slc17a5tm1Lex/Slc17a5+ involves: 129S5/SvEvBrd * C57BL/6J MGI:3609740


Genotype
MGI:4440830
hm1
Allelic
Composition
Slc17a5tm1Lex/Slc17a5tm1Lex
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc17a5tm1Lex mutation (2 available); any Slc17a5 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die during the third postnatal week

nervous system
• at P7 and P15, the number of post-mitotic oligodendrocytes is reduced in the optic nerve compared to in wild-type mice
• at P21, the number of mature oligodendrocytes is reduced in the optic nerve compared to in wild-type mice
• fewer cells are found in the corpus callosum compared to in wild-type mice
• mice do not exhibit an appreciable postchiasmatic optic tract unlike wild-type mice
• brainstem bulk is decreased compared to in wild-type mice
• in the cerebellum
• neurons in the cerebellum and spinal cord contain vacuoles unlike in wild-type mice
• the density of myelinated axons in the ventral white matter of the spinal cord and in the optic nerve is decreased compared to in wild-type mice
• however, myelin density and structures on the sciatic nerve are normal
• the optic nerve is thin with reduced numbers of mature oligodendrocyte compared to in wild-type mice
• optic nerves exhibit abnormal swellings and axonal spheroids unlike in wild-type mice
• mice exhibit an increase in optic nerve apoptosis compared with wild-type mice
• mice exhibit handling-induced tonic-clonic seizures unlike wild-type mice
• mice exhibit handling-induced tonic-clonic seizures unlike wild-type mice
• myelin maturation is delayed compared to in wild-type mice
• optic nerve myelination is attenuated compared to in wild-type mice
• however, mature myelin forms and has relatively normal structure and organization

behavior/neurological
• severe
• uncoordinated
• mice exhibit handling-induced tonic-clonic seizures unlike wild-type mice
• mice exhibit handling-induced tonic-clonic seizures unlike wild-type mice

growth/size/body

vision/eye
• the optic nerve is thin with reduced numbers of mature oligodendrocyte compared to in wild-type mice
• optic nerves exhibit abnormal swellings and axonal spheroids unlike in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sialuria DOID:3659 OMIM:269921
OMIM:604369
J:158444




Genotype
MGI:3609722
hm2
Allelic
Composition
Slc17a5tm1Lex/Slc17a5tm1Lex
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc17a5tm1Lex mutation (2 available); any Slc17a5 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are sickly and some die at 4 weeks of age

growth/size/body
• homozygotes are small and sickly

behavior/neurological
• exhibit impaired exploratory behavior
• exhibit an increased depressive-like response in a suspension test
• exhibit impaired locomotor activity
• exhibit a shaky and lumbering gait

hearing/vestibular/ear
• exhibit hearing deficits

cellular
• exhibit lesions in various tissues that are suggestive of lysosomal storage disease
• exhibit cytoplasmic vacuolization in various tissues

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
lysosomal storage disease DOID:3211 J:103485




Genotype
MGI:3609740
ht3
Allelic
Composition
Slc17a5tm1Lex/Slc17a5+
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc17a5tm1Lex mutation (2 available); any Slc17a5 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism





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
01/17/2023
MGI 6.22
The Jackson Laboratory