ENU-induced G to A transition at base pair 60,487,425(v38) on chromosome 11, or base pair 113,685 in the GenBank genomic region NC_000077; the mutation is within the donor splice site of intron 10. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 10, resulting in a transcript that has an 8-base pair insertion on intron 10. This predicts a frame shifted protein product beginning after amino acid 1,386 of the protein, which is normally 3,511 amino acids in length, and terminating after the inclusion of 23 aberrant amino acids. (J:255209)

Basic Information

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

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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