Phenotypes associated with this allele

• Allele Symbol: Cntnap1^shm
• Allele Name: shambling
• Allele ID: MGI:1857037
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cntnap1^shm/Cntnap1^shm	involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J	MGI:5299428
hm2	Cntnap1^shm/Cntnap1^shm	SHM/Nem	MGI:4838231
ht3	Cntnap1^shm/Cntnap1^shm-2J	Not Specified	MGI:5317291

Genotype
MGI:5299428

hm1

• Allelic Composition: Cntnap1^shm/Cntnap1^shm
• Genetic Background: involves: BALB/cJ * C3HeB/FeJ * C57BL/6J * DBA/2J

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

behavior/neurological

tremors ( J:5040 )

• tremors can be detected in mice as young as 18 days of age

• when adult mice are placed in and removed from water an increasing and prolonged shaking occurs, followed by ataxic running in random directions and violent shivering, the whole process lasting more than half an hour

abnormal motor coordination/balance ( J:5040 )

• poor motor control of the hind limbs

ataxia ( J:5040 )

• mutant mice have a wobbly gait by 18 days of age

impaired coordination ( J:5040 )

• mice can only briefly support their own weight when suspended on a rod

impaired swimming ( J:5040 )

abnormal resting posture ( J:5040 )

• mice stand with hind legs partially splayed outward and stiff

abnormal gait ( J:5040 )

• mice have a loping, wobbly gait detectable by 18 days of age

• while walking the hind limbs are stiff and extended and the posterior trunk wobbles from side-to-side

• steps are exaggerated with the hind paw often placed in front of but lateral to the front paw on the same side

• at times adults may drag one or both hind limbs or intermittently hop

decreased locomotor activity ( J:5040 )

• mice have a decreased total motor activity

growth/size/body

decreased body size ( J:5040 )

• mutant mice can be distinguished from normal siblings at 16-18 days of age

reproductive system

reduced fertility ( J:5040 )

• seldom fertile

mortality/aging

decreased survivor rate ( J:5217 )

• Background Sensitivity: viability of mutant mice averaged about 78% with an indication that genetic background influences survivor rate

Genotype
MGI:4838231

hm2

• Allelic Composition: Cntnap1^shm/Cntnap1^shm
• Genetic Background: SHM/Nem

mortality/aging

lethality at weaning, complete penetrance ( J:165697 )

• mutant mice die at weaning, but will survive somewhat longer if given ground food and other special care

behavior/neurological

tremors ( J:165697 )

• trembling by 3 weeks of age

ataxia ( J:165697 )

• ataxic gait by 3 weeks of age

impaired limb coordination ( J:165697 )

• at P14-15, mutant mice exhibit lack of coordination in hindlimb movement

abnormal limb posture ( J:165697 )

• abnormal posture with hindlimbs extending laterally; progressive with age, with hindlimbs becoming stiffer and held up and off the cage floor

abnormal gait ( J:165697 )

• wobbly gait

decreased locomotor activity ( J:165697 )

• at P14-15, mutant mice exhibit slow motor activity and sometimes become immobile with age

growth/size/body

decreased body size ( J:165697 )

• reduced body size; after 3 weeks of age, the body size of mutant mice does not increase

nervous system

abnormal axon morphology ( J:165697 )

• axonal cytoplasm of the sciatic nerve sometimes contains abnormally large mitochondria and show accumulation of mitochondria and other organelles at the nodal and paranodal regions

abnormal node of Ranvier morphology ( J:165697 )

• length of the nodes is longer in mutant sciatic nerves

abnormal paranode morphology ( J:165697 )

• in CNS paranodes, the paranodal loops face away from the axolemmal membrane and are frequently everted

• in mutant sciatic nerve, potassium channels are redistributed from the juxtaparanode to the paranodal space; Caspr and contactin proteins are not restricted to the paranodal domain; however, voltage gated sodium channels remain enriched at the nodes, similar to controls

abnormal paranodal axoglial junction morphology ( J:165697 )

• paranodal junctions are absent from the paranodes of mutant sciatic nerves, although the paranodal loops face the axolemma and compact myelin formation appears normal

• in CNS paranodes, the paranodal junction is absent

abnormal nerve conduction ( J:165697 )

• in mutant sciatic nerve, the compound action potentials exhibit reduced peak to peak amplitude and delayed onset

decreased nerve conduction velocity ( J:165697 )

• in mutant sciatic nerve, the mean conduction velocity is reduced to 45% of controls

vision/eye

abnormal visual evoked potential ( J:165697 )

• in mutant primary visual cortex, the visual evoked potential elicited by contralateral eye stimulation is smaller than controls and the latency is significantly longer

Genotype
MGI:5317291

ht3

• Allelic Composition: Cntnap1^shm/Cntnap1^shm-2J
• Genetic Background: Not Specified

behavior/neurological

tremors ( J:84767 )

abnormal motor coordination/balance ( J:84767 )

ataxia ( J:84767 )

abnormal gait ( J:84767 )