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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sptbn4qv-lnd
lumbosacral neuroaxonal dystrophy
MGI:1856939
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sptbn4qv-lnd/Sptbn4qv-lnd B6.B10-Sptbn4qv-lnd MGI:3616875


Genotype
MGI:3616875
hm1
Allelic
Composition
Sptbn4qv-lnd/Sptbn4qv-lnd
Genetic
Background
B6.B10-Sptbn4qv-lnd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn4qv-lnd mutation (1 available); any Sptbn4 mutation (122 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• slightly smaller than wild-type and have a more slender torso

nervous system
• 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
• head tremors are seen by the 3rd week of life
• develop a wobbly gait with age and then to drag the hind legs
• develop a progressive spastic paresis at about 5 months of age, demonstrated by marked resistance to passive flexion

reproductive system





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory