ENU-induced T to C transition at base pair 25,169,501 (v38) on chromosome 19, or base pair 16,9991 in the GenBank genomic region NC_000085 in the splice donor site of intron 34, two-base pairs from exon 34. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 97-base pair exon 34 (out of 48 total exons). The mutation would cause a frame-shifted protein product beginning after amino acid 1,415 of the protein, which is normally 2,100 amino acids in length, and termination after the inclusion of 19 aberrant amino acids. (J:274856)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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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