ENU-induced G to T transversion at base pair 74,379,417 (v38) on chromosome 10, or base pair 1,280,076 in the GenBank genomic region NC_000076 within the donor splice site of intron 15 (ENSMUST00000195531.5). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 80-nucleotide exon 15 (out of 35 total exons), resulting in an in-frame deletion of amino acids 640-666 of the protein. (J:255213)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
10
--

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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