Phenotypes associated with this allele

• Allele Symbol: Marchf5^tm1.1Ygi
• Allele Name: targeted mutation 1.1, Shigeru Yanagi
• Allele ID: MGI:6406741
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Marchf5^tm1.1Ygi/Marchf5^tm1.1Ygi Tg(Emx1-cre)#Ito/0	involves: C57BL/6	MGI:6406743

Genotype
MGI:6406743

cn1

• Allelic Composition: Marchf5^tm1.1Ygi/Marchf5^tm1.1Ygi; Tg(Emx1-cre)#Ito/0
• Genetic Background: involves: C57BL/6

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

behavior/neurological

abnormal short-term spatial reference memory ( J:284572 )

• mice show reduced alternation in the Y-maze at P21 and 3 months, suggesting poor short-term memory

• however, mice show normal behavior in the elevated plus maze

decreased grooming behavior ( J:284572 )

• mice spend less time grooming at P21

decreased locomotor activity ( J:284572 )

• mice exhibit increased immobility time in the open field test at P21

cellular

abnormal mitochondrial morphology ( J:284572 )

• neuronal mitochondrial volume and branch number are reduced in the cell body of neurons

• mitochondrial abnormalities are seen with higher frequency in small mitochondria than large mitochondria

• cardiolipin is reduced in mitochondria isolated from brains, however no differences are seen for other phospholipids

• however, mitochondrial swelling is absent and enhanced autophagy or mitophagy is not seen

abnormal mitochondrial crista morphology ( J:284572 )

• neuronal mitochondria shows numerous dilated, swollen cristae

abnormal mitochondrial matrix morphology ( J:284572 )

• neuronal mitochondria shows empty matrices

decreased mitochondrial size ( J:284572 )

• small and simple structured mitochondria are dominant in neurons, while large branched mitochondria are scarcely detected

• small mitochondria are also seen in astrocytes

oxidative stress ( J:284572 )

• level of oxidized proteins is enhanced in the hippocampus indicating enhanced oxidative stress in neurons

hematopoietic system

increased microglial cell activation ( J:284572 )

• mice show enhanced microglial activation in the cerebral cortex and hippocampus

homeostasis/metabolism

abnormal phospholipid level ( J:284572 )

• nearly all cardiolipin species are reduced in the brain

• cardiolipin is reduced in mitochondria isolated from brains

immune system

increased microglial cell activation ( J:284572 )

• mice show enhanced microglial activation in the cerebral cortex and hippocampus

nervous system

increased microglial cell activation ( J:284572 )

• mice show enhanced microglial activation in the cerebral cortex and hippocampus

astrocytosis ( J:284572 )

• mice show enhanced astrogliosis in the cerebral cortex and hippocampus

• treatment with a radical scavenger Edaravone attenuates astrogliosis

abnormal neuron morphology ( J:284572 )

• increase in small mitochondria in neurons and loss of large and branched mitochondria

• neurons show reduced endoplasmic reticulum (ER)-mitochondria contact sites; reduction in both total area and the number of ER-mitochondria contact sites and the frequency of ER-mitochondria contact, indicating reduced ER tethering to mitochondria