Mouse Genome Informatics
hm
    Aspatm1Mata/Aspatm1Mata
involves: 129S5/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• of those that survive post weaning, life spans range from 1.5 to 9 months
• 50% of homozygotes (4/8) die before weaning

adipose tissue
• by 6 months of age mutants have lower body fat compared to wild-types

behavior/neurological
• mutants are able to sustain their balance on the rotorod for only very short periodsmof time
• mutants walk with splayed legs
• the pace of mutants is slower and shaky compared to wild-types
• homozygotes are insensitive to pain when their tails are cut for genotyping

growth/size/body
• by 6 months of age mutants have lower body fat compared to wild-types
• homozygotes are the same size as controls for the first 2 weeks after birth but by 4 weeks the body weight of mutants is significantly less than that of wild-types (J:89099)
• at 6 months the lean body mass of mutants is significantly less than that of wild-types (J:89099)
• at weaning homozygotes weigh significantly less than wild-types (J:89100)
• head circumference is significantly higher in mutants compared to wild-types (J:89099)
• macrocephaly with bulging of the fronto-nasal junction is seen in mutants (J:89100)
• crown-rump length is slightly lower in mutants compared to wild-types

skeleton
• whole body bone mineral content is slightly lower in mutant mice compared to wild-type at 6 months
• lumbar bone mineral content significantly decreases between 1 and 6 months in mutant mice
• whole body bone mineral density does not increase between 1 month and 6 months resulting in significantly lower whole body bone mineral density in mutant mice compared to wild-type at 6 months
• lumbar bone mineral density is significantly lower in mutant mice compared to wild-type

vision/eye
• vacuolation is seen in the ganglion layer of the retina
• vacuolation is seen in the nerve fiber layer of the retina

nervous system
• MRI signal intensity is abnormally high indicating higher than normal water content
• MRI signal intensity is abnormally high indicating higher than normal water content
• extensive vacuolation of the white matter of the deep cortex and white matter bundles of the corpus striatum is seen
• vacuolation is seen in the pyramidal area of the hippocampu
• degeneration is also seen in the cerebellum with the most severe changes seen in the Purkinje cell layer and less severe changes in the other layers
• the level of glutamate in the brain is abnormally low compared to wild-types
• the GABA level is 50% lower than in wild-types
• the aspartate level is significantly higher compared to wild-types

integument
• homozygotes are insensitive to pain when their tails are cut for genotyping

Mouse Models of Human Disease
OMIM IDRef(s)
Canavan Disease 271900 J:89099 , J:89100