ENU mutagenesis induced a C-to-T transition at coding nucleotide 4522 (ENSMUST00000002603) in exon 33. This mutation results in a nonsense mutation of arginine 1508 truncating the protein by 158 amino acids (p.R1508*). A 65% reduction in transcript expression was confirmed by qRT-PCR. (J:158680)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/N
Spontaneous
Single point
Recessive
1
1
2

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

Title
PMID
Journal
Year
IF
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