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Glrbspa
Spontaneous Allele Detail
Summary
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
Alliance: Glrbspa 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
Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
Allelic CompositionGenetic BackgroundCell Line(s)
hm1
Glrbspa/Glrbspa
B6C3Fe a/a-Glrbspa/J
 
hm2
Glrbspa/Glrbspa
involves: C3HeB/FeLe * C57BL/6 * C57BL/6J * DBA/2
 
hm3  Disease Model
Glrbspa/Glrbspa
Not Specified
 
ht4
Glrbspa/Glrb+
B6C3Fe a/a-Glrbspa/J
 
cx5
Glrbspa/Glrbspa
Tg(Eno2-Glrb)456Wha/Tg(Eno2-Glrb)456Wha
involves: C3HeB/FeLe * C57BL/6 * C57BL/6J * DBA/2
 
cx6
Glrbspa/Glrbspa
Tg(Eno2-Glrb)456Wha/0
involves: C3HeB/FeLe * C57BL/6 * C57BL/6J * DBA/2
 
Phenotypes:
Affected Systems
hm1
hm2
hm3
ht4
cx5
cx6
show or hide all annotated terms Sex:
 
behavior/neurological
√ √ √ √ √ √ √
impaired righting response
√ √ √ √ √ √ √
hyperekplexia
√ √ √ √ √ √
increased startle reflex
√ √
limb grasping
√ √ √ √ √
tremors
√ √ √ √ √ √ √
impaired swimming
√ √
abnormal posture
√ √
abnormal gait
√ √
short stride length
√ √
abnormal maternal nurturing
√
cardiovascular system
√ √
hemorrhage
√ √
endocrine/exocrine glands
√ √
abnormal adrenal cortex morphology
√ √
enlarged adrenal glands
√ √
growth/size/body
√ √
decreased body size
√ √
homeostasis/metabolism
√ √
edema
√ √
mortality/aging
√ √
postnatal lethality, incomplete penetrance
√ √
muscle
√ √ √ √ √ √
muscle hypertonia
√ √ √ √
muscle spasm
√ √
nervous system
√ √
abnormal Purkinje cell morphology
√ √
abnormal brain dura mater morphology
√ √
abnormal dorsal root ganglion morphology
√ √
abnormal spinal nerve morphology
√ √
abnormal spinal cord morphology
√ √
abnormal spinal cord ventral horn morphology
√ √
reproductive system
√ √ √ √ √ √ N √
reproductive system phenotype
N
reduced male fertility
√ √ √
impaired fertilization
√ √ √ √
impaired acrosome reaction
√ √
skeleton
√ √
abnormal vertebral column morphology
√ √
abnormal intervertebral disk morphology
√ √
fragile skeleton
√ √
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
√ disease model   expected model not found
Models:
Human Diseases
hm3
IDs
 √
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory