Phenotypes associated with this allele

• Allele Symbol: Sptbn4^qv-lnd
• Allele Name: lumbosacral neuroaxonal dystrophy
• Allele ID: MGI:1856939
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sptbn4^qv-lnd/Sptbn4^qv-lnd	B6.B10-Sptbn4^qv-lnd	MGI:3616875

Genotype
MGI:3616875

hm1

• Allelic Composition: Sptbn4^qv-lnd/Sptbn4^qv-lnd
• Genetic Background: B6.B10-Sptbn4^qv-lnd

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

growth/size/body

decreased body size ( J:11718 )

• slightly smaller than wild-type and have a more slender torso

nervous system

axonal dystrophy ( J:11718 )

• dystrophic axons are seen at the low lumbar and sacral spinal cord levels and are present in both white and grey matter but are particularly concentrated in dorso-lateral white matter

behavior/neurological

tremors ( J:11718 )

• head tremors are seen by the 3rd week of life

abnormal gait ( J:11718 )

• develop a wobbly gait with age and then to drag the hind legs

paresis ( J:11718 )

• develop a progressive spastic paresis at about 5 months of age, demonstrated by marked resistance to passive flexion

reproductive system

male infertility ( J:11718 )

♂