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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gjc2tm1Paul
targeted mutation 1, David L Paul
MGI:2668351
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Gjc2tm1Paul/Gjc2tm1Paul involves: 129/Sv * C57BL/6 MGI:2675145
cx2
 		Gjc2tm1Paul/Gjc2tm1Paul
Gjb1tm1Kwi/Gjb1tm1Kwi 		involves: 129/Sv * C57BL/6 MGI:2675155


Genotype
MGI:2675145
hm1
Allelic
Composition		 Gjc2tm1Paul/Gjc2tm1Paul
Genetic
Background		 involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjc2tm1Paul mutation (0 available); any Gjc2 mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:84338 )
• no obvious behavioral abnormalities
• no demyelination seen in spinal cords of animals between 12 and 26 weeks of age




Genotype
MGI:2675155
cx2
Allelic
Composition		 Gjc2tm1Paul/Gjc2tm1Paul
Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic
Background		 involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)
Gjc2tm1Paul mutation (0 available); any Gjc2 mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:84338 )
• animals die around 6 weeks of age

behavior/neurological
tremors ( J:84338 )
• coarse action tremor developed during the third week of age
• tremor was accentuated with movement
• condition worsened with time
tonic seizures ( J:84338 )
• develop by week 4-5
• characterized by limb extension and loss of consciousness
• frequency and severity increased until death around week 6

vision/eye
absent optic nerve ( J:84338 )
• delayed myelination in optic nerve
• no myelin sheath at day 7
• myelination abnormalities appear as myelination increased

nervous system
tonic seizures ( J:84338 )
• develop by week 4-5
• characterized by limb extension and loss of consciousness
• frequency and severity increased until death around week 6
absent optic nerve ( J:84338 )
• delayed myelination in optic nerve
• no myelin sheath at day 7
• myelination abnormalities appear as myelination increased
abnormal myelination ( J:84338 )
• thin myelin sheaths
• enlarged extra cellular spaces under sheaths
• abnormal oligodendrocytes
• empty myelin sheaths
• variability from one tract to another in conditions observed
• apoptotic cells in affected tracts
demyelination ( J:84338 )
• demyelinated axons




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
10/09/2024
MGI 6.24 		The Jackson Laboratory