ENU-induced T to C transition at base pair 54,939,596 (v38) on chromosome 11, or base pair 23,345 in the GenBank genomic region NC_000077 within the donor splice site of intron 3. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 138-base pair exon 3. Skipping of exon 3 would result in an in-frame deletion of 46 amino acids beginning after amino acid 46 of the protein, which is normally 647 amino acids long. (J:265175)

Basic Information

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