Phenotypes associated with this allele

• Allele Symbol: Nfasc^tm2Bhat
• Allele Name: targeted mutation 2, Manzoor A Bhat
• Allele ID: MGI:4837620
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nfasc^tm2Bhat/Nfasc^tm2Bhat Cnp^tm1(cre)Kan/Cnp^+	involves: 129S1/Sv * 129X1/SvJ	MGI:4838222
cn2	Nfasc^tm2Bhat/Nfasc^tm2Bhat Tmem163^Tg(ACTB-cre)2Mrt/0	involves: FVB/N	MGI:4838223

Genotype
MGI:4838222

cn1

• Allelic Composition: Nfasc^tm2Bhat/Nfasc^tm2Bhat; Cnp^tm1(cre)Kan/Cnp⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

behavior/neurological

ataxia ( J:159621 )

impaired coordination ( J:159621 )

• motor coordination defects

growth/size/body

weight loss ( J:159621 )

• progressive weight loss after P13

nervous system

abnormal paranode morphology ( J:159621 )

• the formation of the distinct paranode domain in sciatic nerve fibers or in CNS myelinated fibers is perturbed with Caspr (Cntnap1) protein not remaining localized to the paranodal region and appearing diffused throughout the internode

• shaker-type potassium channels and Caspr2 (Cntnap2) protein are redistributed from the juxtaparanode to the paranodal space

• however, ankrynG and NF186 remain localized to the nodes, similar to controls

abnormal paranodal axoglial junction morphology ( J:159621 )

• loss of septae-like junctions, formed between the glial paranodal loops and the axon, is seen in the paranodal regions of the sciatic nerve, spinal cord white matter tracts and in Purkinje axons, with accumulation of organelles in the node

• in the CNS myelinated axons, the paranodal loops are often everted away from the axon, astrocytic processes infiltrate the paranodal space, and the parallel arrays of cytoskeletal neurofilaments are disrupted

Genotype
MGI:4838223

cn2

• Allelic Composition: Nfasc^tm2Bhat/Nfasc^tm2Bhat; Tmem163^{Tg(ACTB-cre)2Mrt}/0
• Genetic Background: involves: FVB/N

nervous system

abnormal paranode morphology ( J:159621 )

• the formation of the distinct paranode domain in the sciatic nerve or in CNS myelinated fibers is perturbed with Caspr (Cntnap1) protein not remaining localized to the paranodal region

• shaker-type potassium channels and Caspr2 (Cntnap2) protein are redistributed from the juxtaparanode to the paranodal space

• however, voltage gated sodium channels and ankrynG remain enriched at the nodes, similar to controls

• Schwann cell-expressed gliomedin and EBP50 remains localized to the nodes suggesting that the Ig5-6 do not participate in the association, organization or stabilization of the Schwann cell microvilli or the related proteins at the node