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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Syne1tm1Rexu
targeted mutation 1, Rener Xu
MGI:3700735
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Syne1tm1Rexu/Syne1tm1Rexu involves: 129 * C57BL/6 MGI:3700923
cx2
 		Syne1tm1Rexu/Syne1tm1Rexu
Syne2tm1Rexu/Syne2tm1Rexu 		involves: 129 * C57BL/6 MGI:3700925
cx3
 		Syne1tm1Rexu/Syne1tm1Rexu
Syne2tm1Rexu/Syne2+ 		involves: 129 * C57BL/6 MGI:3700926


Genotype
MGI:3700923
hm1
Allelic
Composition		 Syne1tm1Rexu/Syne1tm1Rexu
Genetic
Background		 involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syne1tm1Rexu mutation (0 available); any Syne1 mutation (202 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
muscle
abnormal muscle fiber morphology ( J:118671 )
• nuclei are disorganized in muscle fibers of mutants; nuclei cluster abnormally, with >99% of muscle fibers have nuclear clusters
• numbers of synaptic nuclei is reduced, but numbers of nuclei peripheral to synapse are increased compared to controls

nervous system
abnormal neuromuscular synapse morphology ( J:118671 )
• no nuclei are observed under the neuromuscular junctions (NMJ) in mutants, compared to 4-5 seen in controls; synapse-associated nuclei are dramatically reduced in number compared to controls




Genotype
MGI:3700925
cx2
Allelic
Composition		 Syne1tm1Rexu/Syne1tm1Rexu
Syne2tm1Rexu/Syne2tm1Rexu
Genetic
Background		 involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syne1tm1Rexu mutation (0 available); any Syne1 mutation (202 available)
Syne2tm1Rexu mutation (0 available); any Syne2 mutation (297 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:118671 )
• double homozygotes are born, but die within 20 minutes

respiratory system
abnormal respiratory mechanics ( J:118671 )
• mice fail to move their ribcages, but can move limbs in response to stimuli
respiratory failure ( J:118671 )
• mice are unable to breathe

nervous system
abnormal neuromuscular synapse morphology ( J:118671 )
• phrenic nerve-diaphragm neuromuscular synapses have broader endplates than controls
abnormal phrenic nerve morphology ( J:118671 )
• phrenic nerve has significantly longer branches than controls




Genotype
MGI:3700926
cx3
Allelic
Composition		 Syne1tm1Rexu/Syne1tm1Rexu
Syne2tm1Rexu/Syne2+
Genetic
Background		 involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syne1tm1Rexu mutation (0 available); any Syne1 mutation (202 available)
Syne2tm1Rexu mutation (0 available); any Syne2 mutation (297 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal neuromuscular synapse morphology ( J:118671 )
• phrenic nerve-diaphragm neuromuscular synapses have broader endplates than controls
abnormal phrenic nerve morphology ( J:118671 )
• phrenic nerve has significantly longer branches than controls




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory