ENU-induced G to T transversion at base pair 15,725,461 (v38) on chromosome 16, or base pair 88,035 in the GenBank genomic region NC_000082 within the splice donor site of intron 40 (1-base pair from exon 40 [out of 86 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 128-base pair exon 40. The mutation would cause a frame-shifted protein product beginning after amino acid 1,742 of the protein (which is normally 4,128 amino acids in length) and termination after the inclusion of 20 aberrant amino acids. (J:274730)

Basic Information

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