ENU-induced A to G transition at base pair 55,931,432 (v38) on chromosome 19, or base pair 189,648 in the GenBank genomic region NC_000085 within the acceptor splice site of intron 14. The effects of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in use of a cryptic site in intron 13. Use of the cryptic splice site would result in a transcript with a 24-base pair insertion of intron 13. The insertion would cause a frame-shifted protein product beginning after amino acid 422 of the protein, and subsequent termination after the inclusion of 148 aberrant amino acids. (J:267536)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
--

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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