Phenotypes associated with this allele

• Allele Symbol: Slc17a5^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Genetics
• Allele ID: MGI:3529082
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc17a5^tm1Lex/Slc17a5^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6	MGI:4440830
hm2	Slc17a5^tm1Lex/Slc17a5^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:3609722
ht3	Slc17a5^tm1Lex/Slc17a5^+	involves: 129S5/SvEvBrd * C57BL/6J	MGI:3609740

Genotype
MGI:4440830

hm1

• Allelic Composition: Slc17a5^tm1Lex/Slc17a5^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:158444 )

• mice die during the third postnatal week

nervous system

decreased oligodendrocyte progenitor number ( J:158444 )

• 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

abnormal corpus callosum morphology ( J:158444 )

• fewer cells are found in the corpus callosum compared to in wild-type mice

abnormal optic tract morphology ( J:158444 )

• mice do not exhibit an appreciable postchiasmatic optic tract unlike wild-type mice

abnormal brainstem morphology ( J:158444 )

• brainstem bulk is decreased compared to in wild-type mice

brain vacuoles ( J:158444 )

• in the cerebellum

abnormal neuron morphology ( J:158444 )

• neurons in the cerebellum and spinal cord contain vacuoles unlike in wild-type mice

abnormal myelin sheath morphology ( J:158444 )

• 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

abnormal optic nerve morphology ( J:158444 )

• 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

abnormal nervous system physiology ( J:158444 )

• mice exhibit an increase in optic nerve apoptosis compared with wild-type mice

environmentally induced seizures ( J:158444 )

• mice exhibit handling-induced tonic-clonic seizures unlike wild-type mice

tonic-clonic seizures ( J:158444 )

• mice exhibit handling-induced tonic-clonic seizures unlike wild-type mice

abnormal myelination ( J:158444 )

• myelin maturation is delayed compared to in wild-type mice

demyelination ( J:158444 )

• optic nerve myelination is attenuated compared to in wild-type mice

• however, mature myelin forms and has relatively normal structure and organization

behavior/neurological

tremors ( J:158444 )

• severe

weakness ( J:158444 )

abnormal gait ( J:158444 )

• uncoordinated

short stride length ( J:158444 )

environmentally induced seizures ( J:158444 )

• mice exhibit handling-induced tonic-clonic seizures unlike wild-type mice

tonic-clonic seizures ( J:158444 )

• mice exhibit handling-induced tonic-clonic seizures unlike wild-type mice

growth/size/body

decreased body size ( J:158444 )

• at P3

postnatal growth retardation ( J:158444 )

vision/eye

abnormal optic nerve morphology ( J:158444 )

• 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

cellular

decreased oligodendrocyte progenitor number ( J:158444 )

• 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

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: Slc17a5^tm1Lex/Slc17a5^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

mortality/aging

premature death ( J:103485 )

• homozygotes are sickly and some die at 4 weeks of age

growth/size/body

decreased body size ( J:103485 )

• homozygotes are small and sickly

decreased body weight ( J:103485 )

behavior/neurological

decreased exploration in new environment ( J:103485 )

• exhibit impaired exploratory behavior

behavioral despair ( J:103485 )

• exhibit an increased depressive-like response in a suspension test

abnormal locomotor behavior ( J:103485 )

• exhibit impaired locomotor activity

abnormal gait ( J:103485 )

• exhibit a shaky and lumbering gait

hearing/vestibular/ear

impaired hearing ( J:103485 )

• exhibit hearing deficits

cellular

abnormal cell morphology ( J:103485 )

• 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: Slc17a5^tm1Lex/Slc17a5⁺
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

homeostasis/metabolism

impaired glucose tolerance ( J:103485 )