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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cPas
Spontaneous
Insertion
Recessive
1
4
10

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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