ENU-induced T to C transition at base pair 19,601,485 (v38) on chromosome 10, or base pair 9,528 in the GenBank genomic region NC_000076 within the donor splice site of intron 3. The effects of the mutation at the cDNA and protein level have not examined, but the mutation could result in skipping of the 164-nucleotide exon 3 (out of 7 total exons). Deletion of exon 3 would result in a frame-shift and coding of 24 aberrant amino acids followed by a premature stop codon after amino acid 100. (J:236694)

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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