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| Nomenclature |
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Symbol:
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Spnb4qv
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Name:
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spectrin beta 4;
quivering
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MGI ID: |
MGI:1856132 |
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Synonyms: |
qv |
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Gene:
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Spnb4
Location:
Chr7:28141402-28232705 bp, - strand
Genetic Position: Chr7,
7.5 cM, cytoband A3
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Mutation
origin |
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Strain of Origin:
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STOCK Ctslfs
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Single point mutation |
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The quivering mutation is a C to T transition point mutation at residue 6397, which introduces a premature stop codon at a position corresponding to amino acid 2078 in the encoded protein. (J:71549) |
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Inheritance: |
Recessive |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Spnb4 Mutation:
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54 strains or lines available |
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  hm1
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Spnb4qv/Spnb4qv |
involves: CBA/Gr |
hearing/vestibular/ear |
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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 Spnb4qv/Spnb4qv mouse are normal, as might be expected in view of the central origin of deafness in this mutant (J:32693).
Urinary amino acids are normal in Spnb4qv homozygotes (J:12160). Effects of Spnb4qvv on serum proteins and serum cholinesterase have been studied, but it is not clear how the results are related to the effects of the gene on behavior (J:315, J:14896).
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| References |
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Original: |
J:167
Yoon CH et al.,
"Quivering, a new first Chromosome mutation in mice"
J Hered 1957;48():176-80
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All: |
9 reference(s)
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