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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Aspanur7
neurological 7
MGI:2671733
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Aspanur7/Aspanur7 involves: C57BL/6J MGI:3027206
cx2
Aspanur7/Aspanur7
Nat8ltm1.2Meck/Nat8ltm1.2Meck
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J MGI:5771696
cx3
Aspanur7/Aspanur7
Nat8ltm1.2Meck/Nat8l+
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J MGI:5771768
cx4
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 (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• as mice age (J:143201)
• N-acetylaspartate-derived neuropeptide NAAG levels are reduced by 25% in 1 year old brains
• widened at P70
• white matter degeneration in the cerebellum, corpus callosum, and other brain regions
• 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)
• vacuoles are seen as swollen axons surrounded by compressed myelin layers (J:226682)
• vacuolation in the corpus callosum at P21 is less intense than in other white matter tracts (J:226682)
• vacuolation in the corpus callosum is less severe at P60 compared with P21 and almost undetectable in 1 year old mice (J:226682)
• at P21, loss of oligodendrocytes occurs in lesion areas unlike in wild-type mice
• at P30, oligodendrocyte loss occurs in the spinal cord gray matter unlike in wild-type mice
• at P70, the number of oligodendrocytes is increased in the brainstem (medial pons) and spinal cord gray matter
• 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)
• within the corpus callosum, white matter degeneration mainly affects the immediate subcortical callosal surface (J:226682)
• massive spongy degeneration of white matter in the cerebellum, most pronounced around the deep cerebellar nuclei and less prominent within the folial white matter (J:226682)
• spongy degeneration worsens with age (J:226682)
• at P21, myelin sheath thickness is reduced compared to in wild-type mice
• at P21, mice exhibit a 40% decrease in phosphatidyl ethanolamine in myelin compared to in wild-type mice
• at P21, normal fatty acid-containing Galc cerebroside is reduced 40% compared to in wild-type mice
• however, the level of hydroxyl fatty acid-containing Galc cerebroside is normal
• myelin degeneration is more pronounced at P70 than at P21

homeostasis/metabolism
• N-acetylaspartate levels are increased in the brain
• mice exhibit abnormal sphingolipid composition, showing a reduction in the concentration of nonhydroxylated fatty acid containing GalC (NFA-GalC) in the brain at P21 and P60, whereas 2-hydroxylated fatty acid-containing GalC (HFA-GalC) levels are reduced to a lesser extent at P60

behavior/neurological
• 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)
• 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)
• latency to fall off the rotating rod is reduced by about 50% (J:226682)
• animals have reduced open field activity (J:85113)
• young mice are hypoactive (J:143201)
• total distance traveled by mice is reduced (J:226682)
• at P21, mice exhibit a wide ataxic gait
• as mice age (J:143201)

mortality/aging
• majority of mice die within 4 weeks

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Canavan Disease 271900 J:143201 , J:226682




Genotype
MGI:5771696
cx2
Allelic
Composition
Aspanur7/Aspanur7
Nat8ltm1.2Meck/Nat8ltm1.2Meck
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aspanur7 mutation (1 available); any Aspa mutation (12 available)
Nat8ltm1.2Meck mutation (0 available); any Nat8l mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• reduced lifespan

homeostasis/metabolism
N
• mice exhibit normal sphingolipid composition
• N-acetylaspartate levels in the brain are absent

behavior/neurological
N
• mice exhibit normal rearing, normal total distance traveled, and normal latency to fall off the rotarod

growth/size/body
N
• normal body weight

nervous system
N
• mice do not develop spongy degeneration or vacuolation in the brain and myelin structure appears normal with no demyelination
• mice exhibit normal thickness of myelin sheaths relative to axon caliber, and do not exhibit axonal degeneration or astrogliosis
• enlargement of pale astrocytic somata extending unusually broad processes that tend to group neighboring axons into microfascicles




Genotype
MGI:5771768
cx3
Allelic
Composition
Aspanur7/Aspanur7
Nat8ltm1.2Meck/Nat8l+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aspanur7 mutation (1 available); any Aspa mutation (12 available)
Nat8ltm1.2Meck mutation (0 available); any Nat8l mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• rearing is reduced
• total distance traveled by mice is reduced

mortality/aging
N
• mice exhibit improved survival rate compared to single Aspanur7 homozygotes

growth/size/body
• body weight is slightly reduced compared with controls but increased compared to single Aspanur7 homozygotes

homeostasis/metabolism
• N-acetylaspartate levels in the brain are reduced compared to single Aspanur7 homozygotes, but still increased compared to wild-type mice

nervous system
• N-acetylaspartate-derived neuropeptide NAAG levels are reduced by 22% in 1 year old brains
• vacuolation in the corpus callosum at P21 is less intense than in other white matter tracts
• vacuolation in the corpus callosum is less severe at P60 compared with P21 and almost undetectable in 1 year old mice
• astrogliosis at P21 and P60
• mice exhibit less spongy degeneration compared to single Aspanur7 homozygotes, most obvious in the pons and midbrain and also visible in the cerebellum and other brain regions
• spongy degeneration worsens with age




Genotype
MGI:3826778
cx4
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 (12 available)
Ugt8atm1Pop mutation (2 available); any Ugt8a mutation (14 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
• mice exhibit progressive neuropathy similar to in Aspanur7 homozygotes
• at P21, mice exhibit a 40% decrease in phosphatidyl ethanolamine in myelin compared to in wild-type mice
• at P21, normal fatty acid-containing Galc cerebroside is reduced 70% compared to in wild-type mice
• however, the level of hydroxyl fatty acid-containing Galc cerebroside is normal

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





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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory