Mouse Genome Informatics
hm
    Slc17a5tm1Lex/Slc17a5tm1Lex
involves: 129S5/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

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
OMIM IDRef(s)
Infantile Sialic Acid Storage Disease; ISSD 269920 J:158444
Salla Disease; SD 604369 J:158444