Phenotypes associated with this allele

• Allele Symbol: Sptbn4^qv-lnd2J
• Allele Name: lumbosacral neuroaxonal dystrophy 2 Jackson
• Allele ID: MGI:1857308
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sptbn4^qv-lnd2J/Sptbn4^qv-lnd2J	C3H/HeJ-Sptbn4^qv-lnd2J/J	MGI:3581203
ht2	Sptbn4^qv-lnd2J/Sptbn4^+	C3H/HeJ-Sptbn4^qv-lnd2J/J	MGI:3698848

Genotype
MGI:3581203

hm1

• Allelic Composition: Sptbn4^qv-lnd2J/Sptbn4^qv-lnd2J
• Genetic Background: C3H/HeJ-Sptbn4^qv-lnd2J/J

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

mortality/aging

premature death ( J:30329 )

• most homozygous animals die by 3.5-4 weeks of age

hearing/vestibular/ear

abnormal auditory brainstem response waveform shape ( J:71549 )

• relative to CBA/CaJ, at 3 to 4 weeks of age response amplitudes are reduced, latencies prolonged, and the ABR is absent aside from the initial waveform peak

increased or absent threshold for auditory brainstem response ( J:71549 )

absent linear vestibular evoked potential ( J:116914 )

• VESPs are absent at the maximum stimulus intensity used

nervous system

abnormal auditory cortex morphology ( J:71549 )

• immunohistochemistry of the axon tracts in the auditory brainstem shows KCNA1 upregulation and redistribution along the length of the axons with increased staining for myelin protein S-100

Genotype
MGI:3698848

ht2

• Allelic Composition: Sptbn4^qv-lnd2J/Sptbn4⁺
• Genetic Background: C3H/HeJ-Sptbn4^qv-lnd2J/J

hearing/vestibular/ear

reduced linear vestibular evoked potential ( J:116914 )

• elevated threshold and prolonged latency for central response peaks