Glrb^spa
Spontaneous Allele Detail

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

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)