ENU-induced T to C transition at base pair 72,015,636 (v38) on chromosome 9, or base pair 96,184 in the GenBank genomic region NC_000075 within the splice donor site of intron 4. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 74-base pair exon 4. The mutation would cause a frame-shifted protein product beginning after amino acid 50 of the protein, which is normally 706 amino acids in length, and termination after the inclusion of eight aberrant amino acids. (J:271971)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
5
--

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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