ENU-induced T to C transition at base pair 100,088,222 (v38) on chromosome 10, or base pair 72,588 in the GenBank genomic region NC_000076 in the splice donor site of intron 8. 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 68-nucleotide exon 8 (out of 10 total exons), resulting in a frame-shifted protein product beginning after amino acid 238 of the protein, and terminating after the inclusion of 27 aberrant amino acids. (J:265121)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
8
--

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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