Glrb<spa> Spontaneous Allele Detail MGI Mouse (MGI:1856363)

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Glrb^spa
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Glrb^spa
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
Alliance:	Glrb^spa page

Mutation
origin

Strain of Origin:

Not Specified

Mutation
description

Allele Type:		Spontaneous
Mutation:		Insertion
		Mutation details: The 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	15 anatomical structure(s)

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:	34 strains or lines available

References

Original:	J:13079 Chai CK, Hereditary spasticity in mice. J Hered. 1961;52(5):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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