Phenotypes associated with this allele

• Allele Symbol: Nat8l^tm1.2Meck
• Allele Name: targeted mutation 1.2, Matthias Eckhardt
• Allele ID: MGI:5771691
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nat8l^tm1.2Meck/Nat8l^tm1.2Meck	involves: 129P2/OlaHsd * C57BL/6	MGI:5771694
hm2	Nat8l^tm1.2Meck/Nat8l^tm1.2Meck	involves: 129P2/OlaHsd * C57BL/6NCrl	MGI:7432675
cx3	Aspa^nur7/Aspa^nur7 Nat8l^tm1.2Meck/Nat8l^tm1.2Meck	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:5771696
cx4	Aspa^nur7/Aspa^nur7 Nat8l^tm1.2Meck/Nat8l^+	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:5771768

Genotype
MGI:5771694

hm1

• Allelic Composition: Nat8l^tm1.2Meck/Nat8l^tm1.2Meck
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

premature death ( J:226682 )

• mice exhibit reduced life span

• mice die suddenly without any obvious signs of illness, weight loss, or seizures

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:226682 )

• N-acetylaspartate levels are undetected in the brain

abnormal enzyme/coenzyme activity ( J:226682 )

• N-acetylaspartate synthase activity is absent

behavior/neurological

behavior/neurological phenotype ( J:226682 )

N • mice exhibit normal behavioral phenotype in the open field test

nervous system

nervous system phenotype ( J:226682 )

N • mice exhibit normal myelin content

abnormal brain morphology ( J:226682 )

• the N-acetylaspartate-derived neuropeptide NAAG is absent in the brain

Genotype
MGI:7432675

hm2

• Allelic Composition: Nat8l^tm1.2Meck/Nat8l^tm1.2Meck
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

behavior/neurological

impaired short-term object recognition memory ( J:332696 )

• mice are impaired in a short-term delay novel object recognition test, unable to discriminate between novel and familiar object

Genotype
MGI:5771696

cx3

• Allelic Composition: Aspa^nur7/Aspa^nur7; Nat8l^tm1.2Meck/Nat8l^tm1.2Meck
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

mortality/aging

premature death ( J:226682 )

• reduced lifespan

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:226682 )

N • mice exhibit normal sphingolipid composition

abnormal enzyme/coenzyme level ( J:226682 )

• N-acetylaspartate levels in the brain are absent

behavior/neurological

behavior/neurological phenotype ( J:226682 )

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

growth/size/body

growth/size/body region phenotype ( J:226682 )

N • normal body weight

nervous system

nervous system phenotype ( J:226682 )

N • mice do not develop spongy degeneration or vacuolation in the brain and myelin structure appears normal with no demyelination

N • mice exhibit normal thickness of myelin sheaths relative to axon caliber, and do not exhibit axonal degeneration or astrogliosis

abnormal astrocyte morphology ( J:226682 )

• enlargement of pale astrocytic somata extending unusually broad processes that tend to group neighboring axons into microfascicles

Genotype
MGI:5771768

cx4

• Allelic Composition: Aspa^nur7/Aspa^nur7; Nat8l^tm1.2Meck/Nat8l⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

behavior/neurological

decreased vertical activity ( J:226682 )

• rearing is reduced

decreased locomotor activity ( J:226682 )

• total distance traveled by mice is reduced

mortality/aging

mortality/aging ( J:226682 )

N • mice exhibit improved survival rate compared to single Aspa^nur7 homozygotes

growth/size/body

decreased body weight ( J:226682 )

• body weight is slightly reduced compared with controls but increased compared to single Aspa^nur7 homozygotes

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:226682 )

• N-acetylaspartate levels in the brain are reduced compared to single Aspa^nur7 homozygotes, but still increased compared to wild-type mice

nervous system

abnormal brain morphology ( J:226682 )

• N-acetylaspartate-derived neuropeptide NAAG levels are reduced by 22% in 1 year old brains

brain vacuoles ( J:226682 )

• 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

astrocytosis ( J:226682 )

• astrogliosis at P21 and P60

spongiform encephalopathy ( J:226682 )

• mice exhibit less spongy degeneration compared to single Aspa^nur7 homozygotes, most obvious in the pons and midbrain and also visible in the cerebellum and other brain regions

• spongy degeneration worsens with age