Grm1^crv4
Spontaneous Allele Detail

Summary

• Symbol: Grm1^crv4
• Name: glutamate receptor, metabotropic 1; cervelet 4
• MGI ID: MGI:3664783
• Gene: Grm1 Location: Chr10:10561803-10958100 bp, - strand Genetic Position: Chr10, 3.44 cM, cytoband A2
• Alliance: Grm1^crv4 page

Mutation origin

• Strain of Origin: BALB/cPas

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: This 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

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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: 81 strains or lines available

References

• 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: 10 reference(s)