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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Aspanur7
neurological 7
MGI:2671733
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Aspanur7/Aspanur7 involves: C57BL/6J MGI:3027206
cx2
Aspanur7/Aspanur7
Ugt8atm1Pop/Ugt8a+
involves: 129P2/OlaHsd * C57BL/6J MGI:3826778


Genotype
MGI:3027206
hm1
Allelic
Composition
Aspanur7/Aspanur7
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aspanur7 mutation (1 available); any Aspa mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• as mice age (J:143201)
• as mice age (J:143201)
• widened at P70 (J:143201)
• widened at P70 (J:143201)
• at P14, vacuoles are detected in the cerebellar white matter in the Purkinje cell layer and brainstem unlike in wild-type mice (J:143201)
• mice exhibit progressive vacuolar degeneration that affects the forebrain, cerebral cortex, hippocampus, subcortical white matter regions, midbrain, pons and cerebellum where the granule cell layer, Purkinje cell layer and white matter show defects unlike in wild-type mice (J:143201)
• lateral sections of the cerebellar sagittal plane exhibit more increasingly severe white matter lesions (J:143201)
• at P70, vacuolization expands into subcortical white matter, brainstem, cerebellum and spinal cord gray matter (J:143201)
• at P70, the dorsal pons is more severely affected than the rest of the pons by vacuolization (J:143201)
• vacuolization is caused by the splitting of the myelin sheath (J:143201)
• at P14, vacuoles are detected in the cerebellar white matter in the Purkinje cell layer and brainstem unlike in wild-type mice (J:143201)
• mice exhibit progressive vacuolar degeneration that affects the forebrain, cerebral cortex, hippocampus, subcortical white matter regions, midbrain, pons and cerebellum where the granule cell layer, Purkinje cell layer and white matter show defects unlike in wild-type mice (J:143201)
• lateral sections of the cerebellar sagittal plane exhibit more increasingly severe white matter lesions (J:143201)
• at P70, vacuolization expands into subcortical white matter, brainstem, cerebellum and spinal cord gray matter (J:143201)
• at P70, the dorsal pons is more severely affected than the rest of the pons by vacuolization (J:143201)
• vacuolization is caused by the splitting of the myelin sheath (J:143201)
• at P21, loss of oligodendrocytes occurs in lesion areas unlike in wild-type mice (J:143201)
• at P30, oligodendrocyte loss occurs in the spinal cord gray matter unlike in wild-type mice (J:143201)
• at P70, the number of oligodendrocytes is increased in the brainstem (medial pons) and spinal cord gray matter (J:143201)
• at P21, loss of oligodendrocytes occurs in lesion areas unlike in wild-type mice (J:143201)
• at P30, oligodendrocyte loss occurs in the spinal cord gray matter unlike in wild-type mice (J:143201)
• at P70, the number of oligodendrocytes is increased in the brainstem (medial pons) and spinal cord gray matter (J:143201)
• at P120, 30% fewer axons are found in the cerebellar white matter compared to in heterozygous mice (J:143201)
• at P120, 30% fewer axons are found in the cerebellar white matter compared to in heterozygous mice (J:143201)
• beginning at P14, mice exhibit progressive spongiform degeneration (J:143201)
• mice exhibit progressive neuropathy similar to in Aspanur7/Aspanur7 Ugt8atm1Pop/Ugt8a+ mice (J:143201)
• beginning at P14, mice exhibit progressive spongiform degeneration (J:143201)
• mice exhibit progressive neuropathy similar to in Aspanur7/Aspanur7 Ugt8atm1Pop/Ugt8a+ mice (J:143201)
• at P21, myelin sheath thickness is reduced compared to in wild-type mice (J:143201)
• at P21, mice exhibit a 40% decrease in phosphatidyl ethanolamine in myelin compared to in wild-type mice (J:143201)
• at P21, normal fatty acid-containing Galc cerebroside is reduced 40% compared to in wild-type mice (J:143201)
• however, the level of hydroxyl fatty acid-containing Galc cerebroside is normal (J:143201)
• myelin degeneration is more pronounced at P70 than at P21 (J:143201)
• at P21, myelin sheath thickness is reduced compared to in wild-type mice (J:143201)
• at P21, mice exhibit a 40% decrease in phosphatidyl ethanolamine in myelin compared to in wild-type mice (J:143201)
• at P21, normal fatty acid-containing Galc cerebroside is reduced 40% compared to in wild-type mice (J:143201)
• however, the level of hydroxyl fatty acid-containing Galc cerebroside is normal (J:143201)
• myelin degeneration is more pronounced at P70 than at P21 (J:143201)

behavior/neurological
• late onset; develop upon movement (J:85113)
• late onset; develop upon movement (J:85113)
• adult mice tremble during movement (J:143201)
• mice develop more severe tremors as they age (J:143201)
• at P70, tremors are slightly increased compared to in younger mice (J:143201)
• adult mice tremble during movement (J:143201)
• mice develop more severe tremors as they age (J:143201)
• at P70, tremors are slightly increased compared to in younger mice (J:143201)
• at P21, mice exhibit a wide ataxic gait (J:143201)
• at P70, ataxia is slightly increased compared to in younger mice (J:143201)
• at P21, mice exhibit a wide ataxic gait (J:143201)
• at P70, ataxia is slightly increased compared to in younger mice (J:143201)
• at P42 to P56, mice exhibit a 50% decreased in latency to fall on a rotarod compared to wild-type mice (J:143201)
• at P42 to P56, mice exhibit a 50% decreased in latency to fall on a rotarod compared to wild-type mice (J:143201)
• animals have reduced open field activity (J:85113)
• animals have reduced open field activity (J:85113)
• young mice are hypoactive (J:143201)
• young mice are hypoactive (J:143201)
• at P21, mice exhibit a wide ataxic gait (J:143201)
• at P21, mice exhibit a wide ataxic gait (J:143201)
• as mice age (J:143201)
• as mice age (J:143201)

growth/size/body
• affected animals are smaller than littermates (J:85113)
• affected animals are smaller than littermates (J:85113)

Mouse Models of Human Disease
OMIM ID Ref(s)
Canavan Disease 271900 J:143201




Genotype
MGI:3826778
cx2
Allelic
Composition
Aspanur7/Aspanur7
Ugt8atm1Pop/Ugt8a+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aspanur7 mutation (1 available); any Aspa mutation (14 available)
Ugt8atm1Pop mutation (2 available); any Ugt8a mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit reduced numbers of oligodendrocytes compared to in wild-type mice (J:143201)
• mice exhibit reduced numbers of oligodendrocytes compared to in wild-type mice (J:143201)
• mice exhibit progressive neuropathy similar to in Aspanur7 homozygotes (J:143201)
• mice exhibit progressive neuropathy similar to in Aspanur7 homozygotes (J:143201)
• at P21, mice exhibit a 40% decrease in phosphatidyl ethanolamine in myelin compared to in wild-type mice (J:143201)
• at P21, normal fatty acid-containing Galc cerebroside is reduced 70% compared to in wild-type mice (J:143201)
• however, the level of hydroxyl fatty acid-containing Galc cerebroside is normal (J:143201)
• at P21, mice exhibit a 40% decrease in phosphatidyl ethanolamine in myelin compared to in wild-type mice (J:143201)
• at P21, normal fatty acid-containing Galc cerebroside is reduced 70% compared to in wild-type mice (J:143201)
• however, the level of hydroxyl fatty acid-containing Galc cerebroside is normal (J:143201)

behavior/neurological
• at P42 to P56, mice exhibit a 50% decreased in latency to fall on a rotarod compared to wild-type mice (J:143201)
• at P42 to P56, mice exhibit a 50% decreased in latency to fall on a rotarod compared to wild-type mice (J:143201)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory