Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gars1C201R mutation
(2 available);
any
Gars1 mutation
(42 available)
Gars1Gt(XM256)6Byg mutation
(0 available);
any
Gars1 mutation
(42 available)
Tg(CAG-GARS)DRwb mutation
(0 available)
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mortality/aging
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N |
• mutants are born at the expected Mendelian ratios, indicating rescue of the embryonic lethality observed in compound heterozygotes without the transgene
• while embryonic lethality is rescued with the transgene, severity of neuropathy is similar to single GarsC201R heterozygotes
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growth/size/body
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• mutants exhibit lower body weights than single GarsGt(XM256)6Byg heterozygotes or wild-type mice
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nervous system
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N |
• mutants exhibit normal numbers of myelinated axons in the motor or sensory branch of the fremoral nerve
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• neuromuscular junctions have regions of immature morphology or denervation, similar to single GarsC201R heterozygotes
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• mutants exhibit reduced nerve conduction velocities, but they are similar to single GarsC201R heterozygotes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gars1C201R mutation
(2 available);
any
Gars1 mutation
(42 available)
Tg(CAG-GARS)DRwb mutation
(0 available)
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behavior/neurological
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• mutants exhibit a similar wire hanging deficit as single GarsC201R heterozygotes
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nervous system
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• nerve conduction velocities are reduced to a similar extent as in single GarsC201R heterozygotes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gars1C201R mutation
(2 available);
any
Gars1 mutation
(42 available)
Tg(CAG-GARS)DRwb mutation
(0 available)
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mortality/aging
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N |
• mutants are born at the expected Mendelian ratios, indicating rescue of the prenatal lethality seen in homozygotes
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• mutants live to a maximum of P20
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growth/size/body
nervous system
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• mutants exhibit a 50% reduction in axon numbers in the motor branch of the femoral nerve
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• mutants exhibit neuromuscular junction defects, with frank denervation at almost half of the postsynaptic sites
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• impaired nerve conduction velocities
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gars1C201R mutation
(2 available);
any
Gars1 mutation
(42 available)
Gars1Nmf249 mutation
(1 available);
any
Gars1 mutation
(42 available)
Tg(CAG-GARS)DRwb mutation
(0 available)
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mortality/aging
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N |
• mutants are viable and born at the expected Mendelian ratios
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growth/size/body
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• decreased body weight compared to GarsC201R heterozygotes
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nervous system
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• the motor branch of the femoral nerve is smaller and axon numbers are reduced
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• mutants exhibit more severe neuromuscular junction defects than either allele as a heterozygote, with a majority of NMJs partially or fully denervated and very few that are fully innervated
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gars1Nmf249 mutation
(1 available);
any
Gars1 mutation
(42 available)
Tg(CAG-GARS)DRwb mutation
(0 available)
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growth/size/body
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• mutants exhibit a similar decrease in body weight as single GarsNmf249 heterozygotes
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nervous system
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• mutants exhibit a similar reduction in axon numbers in motor and sensory nerves as single GarsNmf249 heterozygotes
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• neuromuscular junctions are disrupted to a similar extent as in GarsNmf249 heterozygotes
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• nerve conduction velocities are similar to single GarsNmf249 heterozygotes
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Analysis Tools