All Phenotypes Afg3l2<tm1Arte> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Afg3l2^tm1Arte/Afg3l2^tm1Arte Tg(Pcp2-cre)2Mpin/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5476801
cn2	Afg3l2^tm1Arte/Afg3l2^tm1Arte Gt(ROSA)26Sor^tm1Lrsn/Gt(ROSA)26Sor⁺ Tg(Pcp2-cre)2Mpin/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5476802
cn3	Afg3l2^tm1Arte/Afg3l2^tm1Arte Gt(ROSA)26Sor^tm1Lrsn/Gt(ROSA)26Sor⁺ Tg(Plp1-cre/ERT)3Pop/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5817781
cn4	Afg3l1^tm1.1Arte/Afg3l1^tm1.1Arte Afg3l2^tm1Arte/Afg3l2^tm1Arte Gt(ROSA)26Sor^tm1Lrsn/Gt(ROSA)26Sor⁺ Tg(Plp1-cre/ERT)3Pop/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N	MGI:5817784
cn5	Afg3l2^tm1Arte/Afg3l2^tm1Arte Tg(Plp1-cre/ERT)3Pop/0	involves: C57BL/6J	MGI:5817780
cn6	Afg3l1^tm1.1Arte/Afg3l1^tm1.1Arte Afg3l2^tm1Arte/Afg3l2^tm1Arte Tg(Plp1-cre/ERT)3Pop/0	involves: C57BL/6J * C57BL/6N	MGI:5817783

Allelic Composition	Afg3l2^tm1Arte/Afg3l2^tm1Arte Tg(Pcp2-cre)2Mpin/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Afg3l2^tm1Arte mutation (0 available); any Afg3l2 mutation (69 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)

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

Purkinje cell degeneration in Afg3l2^tm1Arte/Afg3l2^tm1Arte Tg(Pcp2-cre)2Mpin/0 mice

nervous system

abnormal Purkinje cell mitochondrial morphology ( J:193564 )

• at 4 weeks, Purkinje cells have swollen mitochondria with disrupted cristae unlike control cells

microgliosis ( J:193564 )

• progressive

abnormal Bergmann glial cell morphology ( J:193564 )

• impaired in Purkinje cells

astrocytosis ( J:193564 )

• progressive

decreased neuron number ( J:193564 )

• disappearance of almost all neurons at 12 weeks

• however, normal numbers at 4 weeks

neurodegeneration ( J:193564 )

• postnatal and progressive

Purkinje cell degeneration ( J:193564 )

• loss observed at 6 weeks and progresses over time

behavior/neurological

abnormal gait ( J:193564 )

• unsteady at 8 weeks

cellular

abnormal Purkinje cell mitochondrial morphology ( J:193564 )

• at 4 weeks, Purkinje cells have swollen mitochondria with disrupted cristae unlike control cells

abnormal cellular respiration ( J:193564 )

immune system

microgliosis ( J:193564 )

• progressive

hematopoietic system

microgliosis ( J:193564 )

• progressive

Allelic Composition	Afg3l2^tm1Arte/Afg3l2^tm1Arte Gt(ROSA)26Sor^tm1Lrsn/Gt(ROSA)26Sor⁺ Tg(Pcp2-cre)2Mpin/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Afg3l2^tm1Arte mutation (0 available); any Afg3l2 mutation (69 available)
Gt(ROSA)26Sor^tm1Lrsn mutation (1 available); any Gt(ROSA)26Sor mutation (992 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)

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

Abnormal mitochondrial network in Afg3l2^tm1Arte/Afg3l2^tm1Arte Tg(Pcp2-cre)2Mpin/0 Gt(ROSA)26Sor^tm1Lrsn/Gt(ROSA)26Sor⁺ mice

cellular

abnormal Purkinje cell mitochondrial morphology ( J:193564 )

• at 4 weeks, Purkinje cells exhibit fragmentation of mitochondria unlike control cells

• at 6 weeks, mitochondrial fragmentation is very pronounced

nervous system

abnormal Purkinje cell mitochondrial morphology ( J:193564 )

• at 4 weeks, Purkinje cells exhibit fragmentation of mitochondria unlike control cells

• at 6 weeks, mitochondrial fragmentation is very pronounced

abnormal nervous system electrophysiology ( J:193564 )

• Purkinje cell electrophysiological properties are normal at 4 to 5 weeks of age

Allelic Composition	Afg3l2^tm1Arte/Afg3l2^tm1Arte Gt(ROSA)26Sor^tm1Lrsn/Gt(ROSA)26Sor⁺ Tg(Plp1-cre/ERT)3Pop/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

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

cellular

abnormal mitochondrial shape ( J:237410 )

• at 8 weeks of age, oligodendrocytes in the corpus callosum of tamoxifen-treated mice exhibit fragmented mitochondria, unlike in control mice

dilated mitochondrion ( J:237410 )

• at 8 weeks of age, oligodendrocytes in the corpus callosum of tamoxifen-treated mice exhibit swollen mitochondria, unlike in control mice

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

nervous system

abnormal melanoblast morphology ( J:237410 )

• at 10 weeks of age, tamoxifen-treated mice show a strong reduction of mt-YFP+ melanoblasts in the outer root sheath of the hair follicle

• at 28 weeks of age, pigmented hair follicles and c-KIT+ melanoblasts are significantly reduced in dorsal skin, suggesting that premature hair greying is caused by progressive loss of melanoblasts that share a common developmental origin with Schwann cells

abnormal oligodendrocyte morphology ( J:237410 )

• tamoxifen-treated mice show progressive and rapid loss of targeted (mt-YFP+) oligodendrocytes in the corpus callosum after 6 weeks of age, with only a few targeted cells remaining at 28 weeks

• at 10 weeks, the number of total APC+ cells is significantly decreased both in the corpus callosum and in the spinal cord

• at 10 weeks, the % of mt-YFP+ cells in the corpus callosum that are also APC+ is significantly reduced, while the % of APC- Olig2- targeted cells is significantly increased

• surprisingly, the number of mature oligodendrocytes and the size of APC+ cells is increased at 28 weeks of age; enlarged APC+ cells do not co-localize with mt-YFP+ cells but are in fact intensively positive for Olig2 staining

abnormal Schwann cell morphology ( J:237410 )

• at 10 weeks of age, non-myelinating Schwann cells in the subcutaneous nerve plexus show a significant decrease of mt-YFP signal

• at 10 weeks of age, tamoxifen-treated mice show clear signs of Schwann cell pathology affecting preferentially small calibre unmyelinated fibers; several Remak bundles appear affected with individual unmyelinated axons touching each other and showing initial signs of axonal degeneration; inner tongue swellings are also observed in myelinated axons

abnormal sciatic nerve morphology ( J:237410 )

• at 10 weeks of age, tamoxifen-treated mice show a reduction of mt-YFP signal within the sciatic nerve

abnormal oligodendrocyte physiology ( J:237410 )

• tamoxifen-treated mice show death of mature oligodendrocytes followed by compensatory repopulation by untargeted oligodendrocytes

• at 8 weeks of age, several oligodendrocytes undergo dark cell death, a caspase-independent form of death characterized by strong cytoplasmic condensation, chromatin clumping, ruffling of the cell membrane, but no blebbing of the nucleus or plasma membrane

• only a few TUNEL+ apoptotic cells are noted in the corpus callosum at 7 weeks of age

demyelination ( J:237410 )

• at 28 weeks of age, non-myelinated large caliber axons and multivesicular disintegration of adaxonal myelin lamellae are observed in the sciatic nerve

cellular

dilated mitochondrion ( J:237410 )

• at 6 weeks of age, oligodendrocytes of tamoxifen-treated mice exhibit swollen mitochondria

abnormal mitochondrial physiology ( J:237410 )

• at 8 but not at 6 weeks of age, oligodendrocytes of tamoxifen-treated mice exhibit loss of COX1 staining, indicating impaired mitochondrial function

• cytochrome c is undetectable in several swollen mitochondria in oligodendrocytes at 8 weeks of age

embryo

abnormal melanoblast morphology ( J:237410 )

• at 10 weeks of age, tamoxifen-treated mice show a strong reduction of mt-YFP+ melanoblasts in the outer root sheath of the hair follicle

integument

abnormal dermal layer morphology ( J:237410 )

• at 28 weeks of age, tamoxifen-treated mice show reduced fat deposited in the dermis

• however, general skin structure is normal

pigmentation

decreased melanocyte number ( J:237410 )

• at 28 weeks of age, c-KIT+ melanocytes are significantly reduced in dorsal skin

Allelic Composition	Afg3l2^tm1Arte/Afg3l2^tm1Arte Tg(Plp1-cre/ERT)3Pop/0
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Afg3l2^tm1Arte mutation (0 available); any Afg3l2 mutation (69 available)
Tg(Plp1-cre/ERT)3Pop mutation (2 available)

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

behavior/neurological

impaired coordination ( J:237410 )

• at 90 weeks of age, tamoxifen-treated mice show a mild but significant impairment in motor performance on an accelerating rotarod test

• however, no abnormalities in cage behavior are observed

nervous system

abnormal oligodendrocyte morphology ( J:237410 )

• at 90 weeks of age, tamoxifen-treated mice show only a few bigger oligodendrocytes (APC+ cells) in the corpus callosum

• by 86 weeks of age, oligodendrocytes in the spinal cord white matter contain enlarged mitochondria with disrupted cristae

decreased myelin sheath thickness ( J:237410 )

• at 56 weeks of age, a few axons in the spinal cord white matter exhibit thin myelin

increased myelin sheath thickness ( J:237410 )

• at 90 weeks of age, tamoxifen-treated mice show thickened myelin in the antero-lateral funiculi spinal cord white matter

abnormal spinal cord white matter morphology ( J:237410 )

• at 56 weeks of age, a few axons in the spinal cord white matter exhibit thin myelin while others show adaxonal myelin detachment and vacuolization

• by 86 weeks, degenerating axons are surrounded by damaged myelin or contain accumulation of material

axon degeneration ( J:237410 )

• at 90 weeks of age, tamoxifen-treated mice show abnormal myelin profiles characterized by myelin thickening, infoldings and myelin whorls, indicative of axonal degeneration, in the spinal cord

• however, myelination and axonal integrity is largely normal at 56 weeks of age

dysmyelination ( J:237410 )

• at 56 weeks, and more prominently at 86 weeks of age, tamoxifen-treated mice exhibit myelin disruption and myelin detachment in the spinal cord white matter

• however, no obvious demyelination is detected up to 90 weeks of age

cellular

abnormal mitochondrial crista morphology ( J:237410 )

• by 86 weeks of age, oligodendrocytes in the spinal cord white matter exhibit disrupted mitochondrial cristae

increased mitochondrial size ( J:237410 )

• by 86 weeks of age, oligodendrocytes in the spinal cord white matter contain enlarged mitochondria

growth/size/body

growth/size/body region phenotype ( J:237410 )

N	• tamoxifen-treated mice show no significant weight loss up 90 weeks of age

Allelic Composition	Afg3l1^tm1.1Arte/Afg3l1^tm1.1Arte Afg3l2^tm1Arte/Afg3l2^tm1Arte Tg(Plp1-cre/ERT)3Pop/0
Genetic Background	involves: C57BL/6J * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Afg3l1^tm1.1Arte mutation (0 available); any Afg3l1 mutation (35 available)
Afg3l2^tm1Arte mutation (0 available); any Afg3l2 mutation (69 available)
Tg(Plp1-cre/ERT)3Pop mutation (2 available)

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

growth/size/body

decreased body fat mass ( J:237410 )

• at 13 and 28 weeks of age, tamoxifen-treated mice exhibit significantly decreased fat mass relative to single Afg3l1^tm1.1Arte homozygous (control) mice

decreased body weight ( J:237410 )

• starting at 8 weeks of age, tamoxifen-treated mice show decreased body weight relative to control mice

• difference in body weight persists even after adding food pellets directly in the cage

behavior/neurological

impaired coordination ( J:237410 )

• at 11-13 weeks of age, tamoxifen-treated mice spend less time on the rotating rod than control mice

• during a beam walking test, the number of foot slips is significantly higher at 13 weeks and dramatically increased at 28 weeks of age relative to that in control mice

nervous system

microgliosis ( J:237410 )

• demyelination is associated with microglia activation

• tamoxifen-treated mice exhibit activated microglia in the corpus callosum at 28 weeks of age

abnormal brain white matter morphology ( J:237410 )

• tamoxifen-treated mice show marked loss of white matter in the corpus callosum, internal capsule, and cerebellum at 28 weeks of age

astrocytosis ( J:237410 )

• demyelination is associated with astrocyte activation, as shown by upregulation of GFAP in spinal cord and brain lysates at 10 and 28 weeks of age

abnormal spinal cord white matter morphology ( J:237410 )

• tamoxifen-treated mice show progressive demyelination in the spinal cord white matter, with some axons showing adaxonal myelin detachment at 13 weeks and marked signs of demyelination at 18 weeks of age

• the g ratio, expressing the ratio between the diameter of the inner axon and the total fiber diameter, is significantly increased at 28 weeks of age

axon degeneration ( J:237410 )

• tamoxifen-treated mice show signs of secondary axonal degeneration in the spinal cord, with accumulation of organelles and material in axons at 28 weeks of age

demyelination ( J:237410 )

• tamoxifen-treated mice show progressive demyelination in the lumbar spinal cord, resulting in demyelinated and degenerating axons as well as dark cells in the antero-lateral funiculus at 28 weeks of age

• Gallyas' silver staining of brain myelinated tracts showed prominent loss of white matter in the corpus callosum, internal capsule, and cerebellum at 28 weeks of age

• progressive loss of myelin is confirmed by western blot analysis of myelin proteins in spinal cord and brain lysates at 10 and 28 weeks of age

pigmentation

abnormal coat/hair pigmentation ( J:237410 )

• tamoxifen-treated mice show premature and progressive hair greying starting ventrally close to the forelimbs at 10 weeks, resulting in a grey belly at 17 weeks, and finally extending to the dorsal skin at 28 weeks of age; no such phenotype is observed in control mice

adipose tissue

decreased body fat mass ( J:237410 )

• at 13 and 28 weeks of age, tamoxifen-treated mice exhibit significantly decreased fat mass relative to single Afg3l1^tm1.1Arte homozygous (control) mice

hematopoietic system

microgliosis ( J:237410 )

• demyelination is associated with microglia activation

• tamoxifen-treated mice exhibit activated microglia in the corpus callosum at 28 weeks of age

immune system

microgliosis ( J:237410 )

• demyelination is associated with microglia activation

• tamoxifen-treated mice exhibit activated microglia in the corpus callosum at 28 weeks of age

integument

abnormal coat/hair pigmentation ( J:237410 )

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