Phenotypes associated with this allele

• Allele Symbol: Slc25a46^atc
• Allele Name: ataxic
• Allele ID: MGI:6118180
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc25a46^atc/Slc25a46^atc	B6.Cg-Slc25a46^atc	MGI:6286393

Genotype
MGI:6286393

hm1

• Allelic Composition: Slc25a46^atc/Slc25a46^atc
• Genetic Background: B6.Cg-Slc25a46^atc

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

cellular

abnormal Purkinje cell mitochondrial morphology ( J:242350 )

• numerous atypical mitochondria with cytoplasmic inclusions are seen in both the soma and dendrites of Purkinje cells and structural configurations containing concentric stacks of flattened cisternae that surround clusters of mitochondria are frequently seen

mortality/aging

premature death ( J:242350 )

• premature lethality by 3 months of age

growth/size/body

postnatal growth retardation ( J:242350 )

• mice stop gaining weight from the third week of age

behavior/neurological

limb grasping ( J:242350 )

• limb clasping during tail suspension

decreased grip strength ( J:242350 )

• muscle strength begins to deteriorate from the third week of age

abnormal locomotor behavior ( J:242350 )

• unsteady locomotion

ataxia ( J:242350 )

tonic-clonic seizures ( J:242350 )

endocrine/exocrine glands

decreased thymus weight ( J:242350 )

• 4 week old thymi have about 30% of wild-type weight

thymus hypoplasia ( J:242350 )

• severe thymic hypoplasia, with thymus having reduced cellularity in all 4 thymic subpopulations at 4 weeks of age

hematopoietic system

decreased thymus weight ( J:242350 )

• 4 week old thymi have about 30% of wild-type weight

thymus hypoplasia ( J:242350 )

• severe thymic hypoplasia, with thymus having reduced cellularity in all 4 thymic subpopulations at 4 weeks of age

microgliosis ( J:242350 )

• microgliosis in the spinal cord

decreased spleen weight ( J:242350 )

• spleen weight is 25% of wild-type spleen weight

spleen hypoplasia ( J:242350 )

• mice develop severe splenic hypoplasia (25% of wild-type weight) with a decrease in the absolute number of T lymphocytes (CD4+ and CD8+), B lymphocytes (B220+) and myeloid cells (CD11b+, Gr1+)

immune system

decreased thymus weight ( J:242350 )

• 4 week old thymi have about 30% of wild-type weight

thymus hypoplasia ( J:242350 )

• severe thymic hypoplasia, with thymus having reduced cellularity in all 4 thymic subpopulations at 4 weeks of age

microgliosis ( J:242350 )

• microgliosis in the spinal cord

decreased spleen weight ( J:242350 )

• spleen weight is 25% of wild-type spleen weight

spleen hypoplasia ( J:242350 )

• mice develop severe splenic hypoplasia (25% of wild-type weight) with a decrease in the absolute number of T lymphocytes (CD4+ and CD8+), B lymphocytes (B220+) and myeloid cells (CD11b+, Gr1+)

nervous system

tonic-clonic seizures ( J:242350 )

abnormal Purkinje cell mitochondrial morphology ( J:242350 )

• numerous atypical mitochondria with cytoplasmic inclusions are seen in both the soma and dendrites of Purkinje cells and structural configurations containing concentric stacks of flattened cisternae that surround clusters of mitochondria are frequently seen

microgliosis ( J:242350 )

• microgliosis in the spinal cord

abnormal Purkinje cell dendrite morphology ( J:242350 )

• Purkinje cell dendrites are severely stunted, indicating a reduction in dendritic arborization

• 4 week old cerebellum exhibits some degenerated Purkinje cell dendrites, showing disorganized cytoskeleton and containing remnants of mitochondria and other organelles

• however, Purkinje cell numbers and alignment are not affected

thin cerebellar molecular layer ( J:242350 )

• reduction in the thickness of the molecular layer

cerebellum hypoplasia ( J:242350 )

• 25% reduction in the size of the cerebellum

astrocytosis ( J:242350 )

• astrogliosis in the spinal cord

abnormal node of Ranvier morphology ( J:242350 )

• nodes of Ranvier appear more elongated in myelinated fibers of the optic nerve and cerebellum, suggesting disorganization of nodal structures

abnormal retina ganglion cell dendrite morphology ( J:242350 )

• retinal ganglion cell dendrites are underdeveloped

decreased amacrine cell number ( J:242350 )

• Pax6+ amacrine cells in the inner nuclear layer and the ganglion cell layer and GAD65+ GABAergic amacrine cells are reduced

abnormal retina ganglion cell morphology ( J:242350 )

• aberrations of retinal ganglion cell axons in the retina

abnormal synapse morphology ( J:242350 )

• mice show a reduction in vGlut1 and vGlut2 expression in both the molecular layer and internal granule layer, indicating a reduction in glutamatergic synapses

abnormal neuromuscular synapse morphology ( J:242350 )

• neuromuscular junction alternations in the diaphragm, with an increase in the number and density of endplates, resulting in a narrower endplate band along the costal parts of the muscle

• neuromuscular junctions show a reduction in size of individual endplates and a shift towards immature pretzel endplates

• endplate poly-innervation, increase in axonal ramification within the endplate, axon terminal protrusions extending beyond the endplate boundaries and bifurcation of single axons into two endplates

optic nerve atrophy ( J:242350 )

• optic atrophy, with aberrations in retinal ganglion cell axons in the retina with reduced expression of neurofilament protein and disorganized appearance within the optic nerve head

• optic nerve shows a 30% reduction in the number of myelinated axons

decreased spinal cord size ( J:242350 )

• reduction in the size of the spinal cord without any differences in neuronal density or motor neuron appearance

vision/eye

decreased amacrine cell number ( J:242350 )

• Pax6+ amacrine cells in the inner nuclear layer and the ganglion cell layer and GAD65+ GABAergic amacrine cells are reduced

abnormal retina ganglion cell morphology ( J:242350 )

• aberrations of retinal ganglion cell axons in the retina

optic nerve atrophy ( J:242350 )

• optic atrophy, with aberrations in retinal ganglion cell axons in the retina with reduced expression of neurofilament protein and disorganized appearance within the optic nerve head

• optic nerve shows a 30% reduction in the number of myelinated axons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 6		DOID:0080068	OMIM:601152 OMIM:616505	J:242350