ENU-induced T to C transition at base pair 34,229,472 (v38) on chromosome 11, or base pair 554,438 in the GenBank genomic region NC_000077 for the gene within the donor splice site of intron 50. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 121-nucleotide exon 50 (out of 52 total exons), resulting in a frame-shifted protein product beginning after amino acid 1,720 in the coded protein and premature termination after the inclusion of 20 aberrant amino acids. (J:255181)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
1
--

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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