The mutation is a T-to-A transversion at base pair 65,475,260 (GRCm38) on chromosome 18, or base pair 44,325 in the GenBank genomic region NC_000084. The mutation corresponds to nucleotide two within the donor splice site of intron 15. The effect of the mutation at the cDNA and protein level has not been tested, but the mutation is predicted to result in skipping of the 126-base pair exon 15 (out of 16 total exons). Skipping of exon 15 would cause an in-frame deletion of amino acids 635-676. (J:221474)

Basic Information

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