Sptbn4^qv
Spontaneous Allele Detail

Summary

• Symbol: Sptbn4^qv
• Name: spectrin beta, non-erythrocytic 4; quivering
• MGI ID: MGI:1856132
• Synonyms: qv
• Gene: Sptbn4 Location: Chr7:27055808-27147111 bp, - strand Genetic Position: Chr7, 15.88 cM, cytoband A3
• Alliance: Sptbn4^qv page

Mutation origin

• Strain of Origin: STOCK Ctsl^fs

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The quivering mutation is a C-to-T transition point mutation at codiung nucleotide 6397 (transcript XM_006540436), which introduces a premature stop codon at arginine 2133 in the encoded protein (p.R2133*). (J:71549)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Sptbn4 Mutation: 122 strains or lines available

Notes

The quivering mutation arose as a spontaneous mutation in a non-inbred stock (J:167). Viability of homozygotes at weaning is normal, but life span is short, the majority dying before 5 months of age. Males are sterile, but females may be fertile and nurse their litters (J:12158). Homozygotes are characterized by locomotor instability, pronounced quivering, deafness, varying degrees of paralysis of the hindlegs, clasping of the hindlegs when held up by the tail, and priapism in most males (J:167, J:12158). Serial sections of the brain, cord, and nerve roots reveal no abnormalities, and urinary amino acids are normal (J:12160). The inner ear is histologically normal and has normal thresholds for compound action potentials at the round window. However, the thresholds for potentials in the inferior colliculus are twice as high as normal, showing that deafness, unlike that of any other deaf mutant in the mouse, is of central origin (J:11947). The raised thresholds are characteristic of all single units recorded. It is not certain whether the defect in the inferior colliculus is primary or the result of dysfunction of the superior olivary complex and lateral limniscus (J:7804). Cochlear origin distortion product otoacoustic emissions in the Spnb4^qv/Spnb4^qv mouse are normal, as might be expected in view of the central origin of deafness in this mutant (J:32693).

References

• Original: J:167 Yoon CH, et al., Quivering, a new first Chromosome mutation in mice. J Hered. 1957;48(4):176-80
• All: 9 reference(s)