Phenotypes associated with this allele

• Allele Symbol: Pmp2^{tm1.1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:5803681
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pmp2^tm1.1(KOMP)Vlcg/Pmp2^tm1.1(KOMP)Vlcg	involves: C57BL/6 * C57BL/6NTac	MGI:5803705
cx2	Mbp^shi/Mbp^shi Pmp2^tm1.1(KOMP)Vlcg/Pmp2^tm1.1(KOMP)Vlcg	involves: C3HeB/FeJ * C57BL/6 * C57BL/6NTac	MGI:5803708

Genotype
MGI:5803705

hm1

• Allelic Composition: Pmp2^{tm1.1(KOMP)Vlcg}/Pmp2^{tm1.1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6 * C57BL/6NTac

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

nervous system

decreased nerve conduction velocity ( J:211344 )

• electrophysiological analysis of the sciatic nerve revealed a mild reduction in motor nerve conduction velocity (MNCV) at P28 and a significant reduction of MNCV at P56 relative to wild-type controls; however, normal MNCV values are reached at P224

• despite temporary reduction in MNCV, PNS structure is normal as shown by normal periodicity of peripheral myelin at P10, normal distribution of Na_v- and K_v1.2-channels in teased sciatic nerve fibers at P56, as well as normal myelin thickness, axonal distribution and axonal numbers in the sciatic nerve at P10, P56, and P224

homeostasis/metabolism

abnormal lipid homeostasis ( J:211344 )

• mice exhibit changes in the lipid composition of purified PNS myelin isolated from sciatic nerves at P10; however, differences detected at P10 are reduced upon maturation of the PNS, with normal myelin lipidomes seen at P56

behavior/neurological

behavior/neurological phenotype ( J:211344 )

N • adult mice do not exhibit hind limb clasping when lifted up by their tail

Genotype
MGI:5803708

cx2

• Allelic Composition: Mbp^shi/Mbp^shi; Pmp2^{tm1.1(KOMP)Vlcg}/Pmp2^{tm1.1(KOMP)Vlcg}
• Genetic Background: involves: C3HeB/FeJ * C57BL/6 * C57BL/6NTac

behavior/neurological

limb grasping ( J:211344 )

• mice show severe hind limb clasping at P56

tremors ( J:211344 )

• mice develop a severe generalized tremor during locomotion by 2 weeks of age, indicating CNS defects

nervous system

abnormal myelin sheath morphology ( J:211344 )

• mice show a significant increase in the number of Schmidt-Lanterman incisures on sciatic nerve cross sections relative to control mice

• however, peripheral nerve myelin morphology is not significantly altered at P10 and P56 and the distribution of Na_v- and K_v1.2-channels in teased sciatic nerve fibers is normal at P56, indicating that the structure of the node of Ranvier is preserved

decreased nerve conduction velocity ( J:211344 )

• at P56, mice show a significant reduction in motor nerve conduction velocity that is similar to that observed in Mbp^shi homozygotes