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Glrbspa
Spontaneous Allele Detail
Nomenclature
Symbol: Glrbspa
Name: glycine receptor, beta subunit; spastic
MGI ID: MGI:1856363
Synonyms: spa
Gene: Glrb  Location: Chr3:80750906-80820967 bp, - strand  Genetic Position: Chr3, 35.71 cM, cytoband E3-F1
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsThe mutation in the spastic mouse is an insertion of a 7.1 kilobase LINE-1 element within intron 6 of the gene. Glrb mRNA is markedly reduced throughout brains of homozygous mice, and was shown to be aberrantly spliced. (J:18530, J:21071, J:190416)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 16 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Glrb Mutation:  25 strains or lines available
References
Original:  J:13079 Chai CK, Hereditary spasticity in mice. J Hered. 1961;52:241-243
All:  29 reference(s)

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
05/10/2022
MGI 6.19
The Jackson Laboratory