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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nfasctm1.1Brp
targeted mutation 1.1, Peter J Brophy
MGI:3808598
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nfasctm1.1Brp/Nfasctm1.1Brp B6.129P2-Nfasctm1.1Brp MGI:3808611
hm2
Nfasctm1.1Brp/Nfasctm1.1Brp involves: 129P2/OlaHsd * C57BL/6 MGI:3808698
hm3
Nfasctm1.1Brp/Nfasctm1.1Brp involves: 129P2/OlaHsd * ICR MGI:4840025
cn4
Nfasctm1.1Brp/Nfasctm1.2Brp
Tg(Thy1-cre/ERT2)#Brp/0
involves: 129P2/OlaHsd * C57BL/6 MGI:5141310
cx5
Nfasctm1.1Brp/Nfasctm1.1Brp
Tg(Plp1-Nfasc*)1Brp/0
B6.Cg-Nfasctm1.1Brp Tg(Plp1-Nfasc*)1Brp MGI:3808612
cx6
Nfasctm1.1Brp/Nfasctm1.1Brp
Nrcamtm1Gmt/Nrcamtm1Gmt
involves: 129P2/OlaHsd * 129S6/SvEvTac * ICR MGI:4840024
cx7
Nfasctm1.1Brp/Nfasctm1.1Brp
Tg(Nefl-Nfasc)1Brp/0
involves: 129P2/OlaHsd * C57BL/6 MGI:3808702
cx8
Nfasctm1.1Brp/Nfasctm1.1Brp
Tg(Plp1-Nfasc)2Brp/0
involves: 129P2/OlaHsd * C57BL/6 MGI:3808701
cx9
Nfasctm1.1Brp/Nfasctm1.1Brp
Tg(Plp1-Nfasc*)1Brp/0
involves: 129P2/OlaHsd * C57BL/6 MGI:3808699


Genotype
MGI:3808611
hm1
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.1Brp
Genetic
Background
B6.129P2-Nfasctm1.1Brp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die 6 to 7 days after birth

nervous system
• despite the presence of the appropriate proteins, axoglial structures at the paranode fail to assemble and septate junctions are lost while junctional gaps are widened compared to in wild-type mice
• unlike in wild-type mice, microvillar processes of Schwann cells interdigitate in the gap between axon and glial cell
• however, the overlying myelin sheath appears normal
• in the sciatic nerve




Genotype
MGI:3808698
hm2
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.1Brp
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Reduced myelination in the Nfasctm1.1Brp/Nfasctm1.1Brp mouse at P6

nervous system
• the number of myelinated axons is decreased at P6 in the ventral funiculus of the cervical spinal cord compared to in wild-type mice
• however, the total numbers of axons and oligodendrocytes are normal
• interheminodal gaps are increased compared to in wild-type mice
• paranodes and nodes are disrupted
• migration of oligodendrocyte processes is impaired compared to in wild-type mice




Genotype
MGI:4840025
hm3
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.1Brp
Genetic
Background
involves: 129P2/OlaHsd * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• nodes fail to form in myelinating coculture of dorsal root ganglia neurons and Schwann cells unlike wild-type cultures
• nodes and heminodes fail to form unlike in wild-type mice

behavior/neurological




Genotype
MGI:5141310
cn4
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.2Brp
Tg(Thy1-cre/ERT2)#Brp/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
Nfasctm1.2Brp mutation (0 available); any Nfasc mutation (61 available)
Tg(Thy1-cre/ERT2)#Brp mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• central nervous system nodes of Ranvier remain intact after tamoxifen treatment
• Purkinje cells from tamoxifen-treated mice exhibit axon initial segment disintegration compared with control mice
• after 16 weeks, Purkinje cells from tamoxifen-treated mice lack pinceau synapses or exhibit reduced pinceau synapse size compared with control mice
• Purkinje cells tamoxifen-treated mice require a greater current to drive spike firing compared with control mice
• wave-form of action potential exhibit reduced maximum rate of rise and peak amplitude and increased half-width and delay until peak of the afterhyperpolarization potential compared to in control cells
• Purkinje cells of tamoxifen-treated mice fail to maintain spontaneous action potential firing and instead maintain a modal resting potential compared with control cells

behavior/neurological
• at 6 weeks, tamoxifen-treated mice exhibit impaired performance and balance on a rotarod compared with wild-type mice
• at 6 weeks, tamoxifen-treated mice exhibit impaired performance and balance on a rotarod compared with wild-type mice
• in tamoxifen-treated mice at 6 weeks




Genotype
MGI:3808612
cx5
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.1Brp
Tg(Plp1-Nfasc*)1Brp/0
Genetic
Background
B6.Cg-Nfasctm1.1Brp Tg(Plp1-Nfasc*)1Brp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
Tg(Plp1-Nfasc*)1Brp mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• despite the re-establishment of paranodal junctional complexes, the node complex is not rescued




Genotype
MGI:4840024
cx6
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.1Brp
Nrcamtm1Gmt/Nrcamtm1Gmt
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
Nrcamtm1Gmt mutation (1 available); any Nrcam mutation (87 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• sodium ion channels are absent from heminodes unlike in wild-type mice




Genotype
MGI:3808702
cx7
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.1Brp
Tg(Nefl-Nfasc)1Brp/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
Tg(Nefl-Nfasc)1Brp mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• despite surviving beyond day 6 to 7, mice die by 18 to 19 days after birth

nervous system
N
• mice exhibit normal paranodal and nodal complex formation in the peripheral and central nervous system and normal localization of sodium channels to the nodes
• interheminodal gaps are increased compared to in wild-type mice
• migration of oligodendrocyte processes is delayed compared to in wild-type mice with increased interheminodal gaps
• however, by P16 interheminodal gaps are normal




Genotype
MGI:3808701
cx8
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.1Brp
Tg(Plp1-Nfasc)2Brp/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
Tg(Plp1-Nfasc)2Brp mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• axoglial junctions in the central and peripheral nervous system and sodium channel localization to nodes in the central nervous system are normal
• mice exhibit altered sodium channel localization within axons in the peripheral nervous system




Genotype
MGI:3808699
cx9
Allelic
Composition
Nfasctm1.1Brp/Nfasctm1.1Brp
Tg(Plp1-Nfasc*)1Brp/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfasctm1.1Brp mutation (0 available); any Nfasc mutation (61 available)
Tg(Plp1-Nfasc*)1Brp mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal interheminodal gaps, oligodendrocyte process migration and localization of sodium channels to the nodes in the central nervous system





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory