Phenotypes associated with this allele

• Allele Symbol: Cntnap1^em1Bhat
• Allele Name: endonuclease-mediated mutation 1, Manzoor A Bhat
• Allele ID: MGI:7560695
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Cntnap1^em1Bhat/Ccr10/Cntnap1^tm1Bhat	involves: 129S7/SvEvBrd	MGI:7561679

Genotype
MGI:7561679

ht1

• Allelic Composition: Cntnap1^em1Bhat/Ccr10/Cntnap1^tm1Bhat
• Genetic Background: involves: 129S7/SvEvBrd

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

growth/size/body

decreased body weight ( J:342323 )

• mice show decreased weight by P40

behavior/neurological

tremors ( J:342323 )

• mice show tremors starting around P15

impaired coordination ( J:342323 )

• mice are unable to hold on to the beam in beam walking trials indicating a severe motor dysfunction

• mice start to fall off the rotarod when it starts to accelerate, indicating severe fine motor coordination defects

decreased locomotor activity ( J:342323 )

• mice show a significant reduction in motility starting around P15

paresis ( J:342323 )

• mice show motor paresis starting around P15

muscle

muscle weakness ( J:342323 )

• mice show general muscle weakness starting around P15

nervous system

abnormal paranode morphology ( J:342323 )

• juxtaparanodal K+ channels are completely mislocalized into the paranodal region and are in direct proximity to the nodal area

abnormal paranodal axoglial junction morphology ( J:342323 )

• the ladder-like paranodal axo-glial septate between the myelin loops and the axonal axolemma is absent in the paranodal region of the CNS and PNS and no septa-like structures are seen indicating loss of the paranodal axo-glial septate junctions

dysmyelination ( J:342323 )

• hypomyelination in both the CNS and PNS

• g-ratio of white matter myelinated axons is increased in both the CNS and PNS at 2 months of age; the average g-ratio is 33% higher in the CNS and in small axons, the g-ratio is increased even more

• axons with a higher g-ratio are more frequent compared to controls; 72.04% of mice show axons with a g-ratio of 0.75 or above compared to 0% in controls

• mice show an increase in the proportion of unmyelinated axons (3.8% compared to 0.9% in controls)

abnormal nerve conduction ( J:342323 )

• nerve conduction amplitudes for the sciatic nerve and the ankle region are reduced at P30

• the latency measuring the time taken for the fastest nerve fibers to conduct between the two stimulation points is increased for the sciatic nerve

decreased nerve conduction velocity ( J:342323 )

• nerve conduction velocities for the sciatic nerve and the ankle region are reduced at P30