ENU-induced TCAC>TC substitution at base pair 68,697,987 (v38) on chromosome 3, or base pair 7,344 in the GenBank genomic region NC_000069 within exon 8 out of 8 total exons. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in a frame-shift in the encoded protein. The frame-shift is predicted to result in coding of 34 aberrant amino acids after amino acid 216, and is predicted to result in loss of the original stop codon after amino acid 236. The frame-shift results in coding of a stop codon 45-base pairs within the 3-untranslated region (3-UTR) of exon 8. (J:267667)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
--

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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