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Spontaneous Allele Detail
Symbol: Grm1crv4
Name: glutamate receptor, metabotropic 1; cervelet 4
MGI ID: MGI:3664783
Gene: Grm1  Location: Chr10:10686059-11082356 bp, - strand  Genetic Position: Chr10, 3.44 cM, cytoband A2
Strain of Origin:  BALB/cPas
Allele Type:    Spontaneous
Mutation:    Insertion
Mutation detailsThis mutation arose at the Institut Pasteur. Genetic mapping localized it to the vicinity of Grm1, of which it was shown to be an allele by its failure to complement a targeted mutation of the gene. A larger than wild-type transcript was amplified by RT-PCR from mutant cerebella; sequence analysis of the cDNA revealed a 139-base pair insertion between exons 4 and 5. A 190-base pair LTR fragment interrupting intron 4 was found to alter splicing of the transcript to create a new exon comprising 23 bp from the intron and 116 bp from the LTR fragment, including an in-frame termination codon. No wild-type transcript was amplified by PCR and no immunoreactive protein was detected by western blot or immunohistochemical analysis of homozygous mutant cerebella. (J:112290)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Grm1 Mutation:  11 strains or lines available
Original:  J:112290 Conti V, et al., crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1). Int J Mol Med. 2006 Oct;18(4):593-600
All:  8 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
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