ENU-induced G to A transition at base pair 108,513,071 (v38) on chromosome 12, or base pair 142,070 in the GenBank genomic region NC_000078 within the splice donor site of intron 10. 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 96-base pair exon 10. The mutation would cause an in-frame deletion of 32 amino acids beginning after amino acid 335 of the protein, which is normally 814 amino acids long. (J:272865)

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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